Important Clinical Symptoms Research Articles

Abnormal Thermoregulatory Responses in Adolescents With Chronic Fatigue Syndrome: Relation to Clinical Symptoms

Chronic fatigue syndrome is a common and disabling disease of unknown etiology. Accumulating evidence indicates dysfunction of the autonomic nervous system. To further explore the pathophysiology of chronic fatigue syndrome, we investigated thermoregulatory responses dependent on catecholaminergic effector systems in adolescent patients with chronic fatigue syndrome. A consecutive sample of 15 patients with chronic fatigue syndrome aged 12 to 18 years and a volunteer sample of 57 healthy control subjects of equal gender and age distribution were included. Plasma catecholamines and metanephrines were measured before and after strong cooling of 1 hand. Acral skin blood flow, tympanic temperature, heart rate, and mean blood pressure were measured during moderate cooling of 1 hand. In addition, clinical symptoms indicative of thermoregulatory disturbances were recorded. Patients with chronic fatigue syndrome reported significantly more shivering, sweating, sudden change of skin color, and feeling unusually warm. At baseline, patients with chronic fatigue syndrome had higher levels of norepinephrine, heart rate, epinephrine, and tympanic temperature than control subjects. During cooling of 1 hand, acral skin blood flow was less reduced, vasoconstrictor events occurred at lower temperatures, and tympanic temperature decreased more in patients with chronic fatigue syndrome compared with control subjects. Catecholamines increased and metanephrines decreased similarly in the 2 groups. Adolescent patients with chronic fatigue syndrome have abnormal catecholaminergic-dependent thermoregulatory responses both at rest and during local skin cooling, supporting a hypothesis of sympathetic dysfunction and possibly explaining important clinical symptoms.

Important Clinical Symptoms in Patients Undergoing Functional Endoscopic Sinus Surgery for Chronic Rhinosinusitis

To evaluate the prevalence and severity of individual Rhinosinusitis Task Force (RSTF) symptoms in patients with chronic rhinosinusitis (CRS) undergoing functional endoscopic sinus surgery (FESS). Retrospective analysis of prospectively collected data in 201 patients treated with FESS. The prevalence and severity of individual RSTF major and minor symptom scores graded on a visual analogue scale (VAS) were compared. Correlation between absolute improvement in individual symptom scores at 1-year postoperative was performed. One-hundred fifty-eight of 201 patients met inclusion criteria giving a response rate of 78%. The average age was 49.4 (range 18-80) with a male-to-female ratio of 1.1:1. The preoperative leading mean symptom scores were postnasal drip (5.8 +/- 0.3), nasal obstruction (5.7 +/- 0.3), and facial congestion (5.1 +/- 0.3). These symptoms were also the most prevalent with 82%, 84%, and 79% of patients reporting these symptoms, respectively. Postoperative symptom improvements were significant (P < .0001) across all RSTF domains except fever. The highest percentage improvement was seen with facial congestion (93%), nasal obstruction (92%), and postnasal drip (85%). Multivariate analysis revealed significant (P < .0001) high correlation between improvements of facial pain/pressure with facial congestion (R = 0.72), facial congestion with nasal obstruction (R = 0.65), and facial pain/pressure with headache (R = 0.72). The top three RSTF symptoms were postnasal drip, nasal obstruction, and facial congestion in terms of prevalence and severity. Symptom scores improved after FESS. Of these symptoms, the degree of improvement of facial pain/pressure, facial congestion, nasal obstruction, and headache are highly correlated.

Late-Onset Wilson’s Disease

The clinical symptoms and age at onset of Wilson's disease (WD) are highly variable. This study investigated patients who became symptomatic at >40 years of age. Clinical features, laboratory data, and mutation analysis were evaluated in 46 (3.8%) of 1223 patients who were investigated in a multinational study on genotype-phenotype correlations (1053 index patients, 170 siblings) who were >40 years of age at onset of symptoms and, in 2 asymptomatic siblings, diagnosed at >40 years of age. Thirty-one patients presented with neurologic symptoms (mean age, 44.5 years; range, 40-52; male/female, 14/17), 15 presented with liver disease (mean age, 47.1 years; range, 40-58; male/female, 6/9), and 2 were asymptomatic siblings. Hepatic copper content was measured in 17 patients and was above 250 microg/g dry weight in 13. One patient with hepatic presentation had "fulminant" WD, the remaining 14 abnormal liver function tests and/or hepatomegaly. Liver biopsy specimens were available in 13 patients presenting with liver disease (cirrhosis, 10; chronic hepatitis, 2; steatosis, 1; no abnormalities, 1) and in 14 neurologic patients (cirrhosis, 9; advanced fibrosis, 1; chronic hepatitis, 2; no abnormalities, 2). Twenty-seven of the 46 index cases had mutations on both chromosomes (including 13 H1069Q/H1069Q), 13 on just 1 chromosome. Late-onset WD is a frequently overlooked condition. The diagnostic features and the frequency of late-onset WD gene mutations were not different than in patients with an earlier onset of disease. Factors other than ATP7B mutations may modify the phenotypic presentation of WD.

Aggression and Quantitative MRI Measures of Caudate in Patients With Chronic Schizophrenia or Schizoaffective Disorder

Caudate dysfunction is implicated in schizophrenia. However, little is known about the relationship between aggression and caudate volumes. Forty-nine patients received magnetic resonance imaging scanning in a double-blind treatment study in which aggression was measured. Caudate volumes were computed using a semiautomated method. The authors measured aggression with the Overt Aggression Scale and the Positive and Negative Syndrome Scale. Larger caudate volumes were associated with greater levels of aggression. The relationship between aggression and caudate volumes may be related to the iatrogenic effects of long-term treatment with typical antipsychotic agents or to a direct effect of schizophrenic processes on the caudate.

Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients.

Leukocyte adhesion deficiency type II is an autosomal recessive syndrome characterized by generalized reduction of L-fucose in glycoconjugates; the specific molecular defect is still undefined. The most important clinical symptoms include severe growth and mental retardation and severe immunodeficiency. Patients from two ethnic groups have been reported, i.e. Arab and Turkish. We have observed that GDP-L-fucose transport into Golgi vesicles was specifically impaired in an Arab patient, with a significant reduction of the V:(max) but no significant differences in the K:(m) from control and parents. GDP-L-fucose transport showed simple saturation kinetics in all samples. Transport of UDP-galactose, UDP-N:-acetylglucosamine, and CMP-sialic acid was comparable into vesicles from the Arab patient, parents, and control. These kinetic parameters probably account for the failure to obtain any clinical and biochemical response to fucose therapy in Arab patients. This contrasts both with the distinctive kinetic properties of GDP-L-fucose transport and with the success of fucose therapy, which have been recently reported in one patient of Turkish origin. Accordingly, the biochemical properties of GDP-L-fucose transport into the Golgi are consistent with different variants of leukocyte adhesion deficiency type II that are probably the result of different molecular defects.

Diagnostic imaging of the kidneys and the urinary tract in children

Imaging flow charts differ in pediatric and general radiology. The reasons are: different illnesses, different consequences arising out of imaging results and different sequence of imaging methods. Ultrasound is always the first imaging method of the urinary tract in infancy and childhood starts with ultrasound with the exception of severe abdominal trauma which is investigated by computer-tomography. The decision "normal or abnormal" is possible using ultrasound in the most pediatric cases. The diagnostic value and significance of ultrasound in infancy and childhood is far better than in general radiology because of the higher resolution of the high-frequency units taken. The result of the ultrasound examination should be the basis for the following imaging procedures. We will describe diagnostic flow charts starting with three important clinical symptoms: Prenatal pathology, urinary tract obstruction and urinary tract infection.

Obstructive sleep apnea in the obese.

Obstructive sleep apnea (OSA) syndrome occurs in 4% to 9% of middle-aged men and in 1% to 2% of middle-aged women. The incidence of OSA among morbidly obese patients is 12- to 30-fold higher. The pathophysiology of OSA is complex and incompletely understood. The important clinical symptoms of OSA include snoring, daytime sleepiness, restless sleep, morning fatigue, and headaches. The diagnosis is made by polysomnography. The possible sequelae of OSA are hypertension, left and right ventricular hypertrophy, sudden cardiovascular death, and increased risk for brain infarction. Nasal continuous positive airway pressure (nCPAP) appears to be the recommended treatment for OSA. Morbidly obese patients may also benefit from weight reduction gastric surgery.

Mitochondrial diseases

Mitochondrial disease are a heterogeneous group, combining multiple symptoms resulting from defects in various organs. Thus identification of a particular mitochondrial disease due to clinical symptoms is not possible. However, simple biochemical tests can provide guiding and reliable results quickly. We present a classification of the mitochondrial diseases, describing important clinical symptoms and explaining a diagnostic plan to identify defects of biochemical mitochondrial pathways.

FOODS

Controlled studies of food hypersensitivity have provided a better understanding of systemic reactions following food ingestion. Common features in reported cases include previous episodes of anaphylaxis with the incriminated foods, a failure to recognize early symptoms of anaphylaxis, and a delay or lack of immediate use of subcutaneous epinephrine to treat these systemic, allergic reactions. Potential mechanisms underlying the pathogenesis of food hypersensitivity reactions and new insights into other clinical conditions thought to be triggered by food allergy have been discussed. The DBPCFC remains the “diagnostic gold standard” for food hypersensitivity, but properly designed open- and single-blinded food challenges can also be useful in certain situations in the initial clinical assessment of food allergy. Strict elimination of the responsible food allergen remains the only proven therapy to prevent fatal and nearly fatal reactions in persons at risk. Patient education measures regarding food allergy are very important and should include the recognition of important clinical symptoms and specific instructions on the immediate administration of epinephrine in suspected cases of anaphylaxis. Future controlled studies of foodinduced anaphylaxis will help provide a better overall understanding of this medical condition. Finally, more comprehensive epidemiologic studies are needed to determine the actual incidence and prevalence of foodinduced anaphylaxis.

Clinical and therapeutic aspects of obstructive sleep apnea syndrome in infants and children.

Sleep related increases in respiratory resistive loads in infants and children may or may not be associated with complete obstruction, i.e. obstructive apneas. Nevertheless, important clinical symptoms, both nocturnal and diurnal, may be present and should be taken into consideration. A thorough investigation must be performed to select the most appropriate therapy.

Transseksüel Ve Homoseksüellerde Herpes Simplex Virus (Hsv)-2 Lgm'nin Elisa İle Araştırılması

In this study, we have examined 27 cases (12 transsexuals and 15 homosexuals), in the 20 of 27 cases average ages were between 21 and 30. 2 transsexuals' ages were 36. There were not found any important clinical symptoms in these cases. AII of cases have examined for several causes in Forensic Medicine Department of Medical Faculty, of Ankara University. HSV-2 lgM antibodies were detected with Elisa in the sera of cases. HSV-2 lgM were found positive in 3 homosexuals and 4 transsexuals. In cases with homosexual contact seropositivity of HSV-2 lgM were found %26 (7/27) HSV-2 lgM seropositivity was accepted the sign active infection. As a result, HV- infection is an important risk for transsexual and homosexual cases.

Primary leptomeningeal gliomatosis with predominant involvement of the spinal cord

The authors report on a 43-year-old male with apparent myelomeningeal encephalitis. The most important clinical symptoms included severe lymphocytosis of the CSF, cranial nerve palsies, obstructive hydrocephalus, progressive coma, and presence of an intramedullary mass causing paraplegia. Neither CSF analysis, nor the intraoperative findings gave evidence of a neoplastic process. Regarding the paraclinical data we supposed a CNS inflammatory process, but autopsy revealed the diagnosis of an intraspinal, leptomeningeal gliomatosis.

X-Ray Microanalysis of Respiratory Epithelial Cells in the Study of Cystic Fibrosis

One of the most important clinical symptoms associated with cystic fibrosis (CF) is obstructive airway disease and recurrent airway infections. The smaller airways in CF patients are blocked by viscous mucus, and infections are common and difficult to manage. Generally, lung disease is directly or indirectly the cause of death in CF. The viscous mucus in CF is likely to be a result of defective water transport in the respiratory epithelium. Water transport is coupled to chloride secretion, and it is strongly suspected that a defective chloride channel in the apical membrane of the respiratory epithelial cells is the basic error in CF. We therefore studied changes in the intracellular concentration of chloride (and other ions) by x-ray microanalysis of cultured respiratory epithelial cells under a variety of conditions.Tissues were obtained from material excised during polypectomy. The tracheal mucosa was digested with collagenase and the dispersed cells were plated onto Milliporefilters coated with human placental collagen.

Prostaglandins in Small Intestinal Mucosa of Children with Celiac Disease

Diarrhea is one of the important clinical symptoms in patients suffering from celiac disease and is attributed mainly to malabsorption. We determined pros tanoid content in small intestinal mucosa of five patients with active celiac disease and in a control group consisting of six patients. Prostaglandin E2 and thromboxane B2 content in duodenal mucosa of patients with active celiac disease was 1,581 ± 161 and 118 ± 40 pg/mg wet wt, respectively, significantly higher than their content in duodenal mucosa of the control group, 378 ± 86 and 8 ± 8, p&lt;0.001 and p&lt;0.02, respectively. 6‐Ketoprostaglandin Fla content in celiac patients was not significantly different from its content in the control group: 908 ± 437 and 124 ± 53 pg/mg wet wt, respectively. It is possible that, in celiac disease, increased mucosal prostanoid content may contribute, at least in part, to intestinal electrolyte and fluid secretion and consequent diarrhea.

Prostaglandins in small intestinal mucosa of children with celiac disease.

Diarrhea is one of the important clinical symptoms in patients suffering from celiac disease and is attributed mainly to malabsorption. We determined prostanoid content in small intestinal mucosa of five patients with active celiac disease and in a control group consisting of six patients. Prostaglandin E2 and thromboxane B2 content in duodenal mucosa of patients with active celiac disease was 1,581 +/- 161 and 118 +/- 40 pg/mg wet wt, respectively, significantly higher than their content in duodenal mucosa of the control group, 378 +/- 86 and 8 +/- 8, p less than 0.001 and p less than 0.02, respectively. 6-Ketoprostaglandin F1 alpha content in celiac patients was not significantly different from its content in the control group: 908 +/- 437 and 124 +/- 53 pg/mg wet wt, respectively. It is possible that, in celiac disease, increased mucosal prostanoid content may contribute, at least in part, to intestinal electrolyte and fluid secretion and consequent diarrhea.

Giant Middle Cerebral Artery Aneurysm with Feeding Artery Occlusion

Two cases of giant middle cerebral artery aneurysm with feeding artery occlusion were presented. The first case was a 40-year-old male. The patient had had a transient ischemic attack and subsequently a complete stroke. Arteriography on admission revealed a large aneurysm of the right middle cerebral artery with intraluminal thrombus. Follow-up arteriography performed 6 days later revealed a right middle cerebral artery occlusion at the M1 portion, and no aneurysm. At surgery, the lumen of the aneurysm was filled with thrombus. Superficial temporal artery middle cerebral artery (STA-MCA) anastomosis and partial removal of the aneurysm were performed. The second case was a 65-year-old male with a fatal subarachnoid and intracerebral hemorrhage. Existence of a large aneurysm of the right middle cerebral artery with intraluminal thrombus and calcification of the wall was suspected from the plain skull film and CT scan. Arteriography revealed a right internal carotid artery occlusion at the C1 portion. Eleven cases reported in the literature were reviewed; ischemic attack due to compromised circulation through the middle cerebral artery is one of the important clinical symptoms, and the risk of rupture is present even in an aneurysm with calcification of the wall. Therefore, resection of the aneurysm together with STA-MCA anastomosis seemed to be the essential treatment of choice for the giant middle cerebral artery aneurysm.

The Concept of the Body Schema: A Critical Review and Some Experimental Results

The concept of the body schema is widely used, in clinical neurology and in neuropsychological research, to explain a great variety of disturbances. A historical review demonstrates that the classical authors have by no means developed an unequivocal, let alone unitary concept. Subsequent use and misuse has virtually emptied the theoretical construct of its previous meaning. The most important clinical signs and symptoms which are termed “disturbances of the body schema” are discussed in detail, on the basis of experimental results. Neither autotopagnosia, nor finger agnosia, nor “right-left disorientation” are unitary in nature. All of these disturbances appear in various types, brought about by varying underlying neuropsychological deficit, such as aphasia, spatial disorientation or general mental disorder.

Perforation of the bronchial wall by a caseous gland with acute asthmatic symptoms

A case of h˦matogenous dissemination of tuberculosis from a primary complex occurring in an adult is described. Attention is particularly drawn to the glandular component of the complex, which in this case was of considerable size and gave rise to important clinical symptoms. The sudden onset of an attack of acute respiratory distress is recorded. This was due to bronchial obstruction caused by a caseous hilar gland which penetrated the right main steam bronchus. Attention is drawn to the place of bronchoscopy in such an attack. The type of pain which occurred is described and its possible causation and localisation are discussed.