Medical Journal of Tabriz University of Medical Sciences
Year:2004 | Volume:38 | Issue:63|Papers Count:21

Background and Objectives: Respiratory tract infections and diarrhea are two important causes of under 5-year-old mortalities. The third cause of under 5-year mortality rate in Iran is respiratory infections and the fourth is diarrhea. So determination of their incidence rates and risk factors in Iran is important to control the diseases.Materials and Methods: A longitudinal study was carried out in Shiraz in 1996 in which 329 newborns selected randomly and followed for two years, at 0, 1.5, 3, 4.5, 6, 8, 10, 12, 15, 18, 21 and 24 months of age. Data were collected using a semistructured questionnaire and filled up by interview, observation and examination of infants. The incidence rates of respiratory tract infections and diarrhea measured for age intervals and their correlation with different variables were tested properly.Results: The incidence rates of respiratory tract infections and diarrhea were 29.39 and 5.92 in the first year of life and 27.32% and 4.76% in the second. Father’s education and job, mothers age and individual hygiene had significant relative risk with respiratory infections and individual hygiene and environmental hygiene had significant relative risk with diarrhea in different age intervals with logistic regression. The most attributable risk belonged to fathers under 9 years education (8.18%) that related to 5.46% of the incidence of respiratory infection in 1.5-6 months old infants. It takes one sixth of the incidence rate in this age interval.Conclusion: Results show that cultural and socioeconomic factors have more correlation with respiratory tract infections in infants than individual factors. However, the majority of the respiratory tract infection control programs emphasize on promoting individual health factors. So it seems that socioeconomic health factors are so important that they should be taken into account in these programs.

Background and Objectives: One of the important problems in the operational procedures of varicocele through inguinal and subinguinal is the preservation of spermatic artery. In this study, we compared the efficacy of vasodilatators on spermatic artery.Materials and Methods: From 2000 to 2002, all patients with varicocele who admitted in the hospital and candidated for operation were selected. In 85 patients‚ 95 microscopic subinguinal varicocelectomy were performed. In patients whose arteries had not pulsatile or contracted during operation, verapamil, nitroglycerine or papverine were used respectively, while the surgeon was not informed about the type of drug used. Then results compared with each other.Results: In 30 cases out of 90, enough arterial pulse was existed and did not need for drug use. In 19 cases, the artery was contracted and needed to use a drug in which verapamil had the best results (87.5%). In 56 cases arterial pulsation was not seen and drug was applicated. Verapamil worked more rapid than other two drugs and the difference was significant statistically (with nitroglycerin P=0.0282 and with papaverine P=0.0001). Generally, verapamil in 90.9 percents was effective in exposing of spermatic artery. Only one case with arterial injury was observed that who not responded to drug. In post-surgical follow up only one case had hydrocele and three cases had recurrence of varicocele. Conclusion: Considering the appropriate effects of verapamil on the exposure of spermatic artery, we recommend verapamil routinely to be used during microscopic varicocelectomy.

Background and Objectives: DNA damage activates signaling pathways that arrest the cell cycle to provide time for repairing of lesions and control the activation of these DNA repair processes or to induce the apoptosis program in the case of too severe damage. Defects in these so-called checkpoint pathways can result in genomic instability and mutagenesis which in mammals can lead to cancer. The crucial role of Chk2 in the DNA damage response pathway is evidenced by the findings that Chk2 -/- ES cells were defective in maintaining gamma-IR-induced G2-phase arrest and that Chk2 null thymocytes failed to stabilize p53 and to induce G1-phase arrest and apoptosis. Moreover, heterozygous mutations in the Chk2 gene have been identified in human inherited and sporadic cancers, suggesting that Chk2 acts as a tumor suppressor. Materials and Methods: In order to discover new regulators of Chk2, we have performed a yeast two- hybrid screen. We used human Chk2 as a bait and also human cDNA library to find out proteins interacting with Chk2. The yeast used in this project was AH109 strain. Results: We found that Chk2 associated with several different proteins including. Protein phosphatase 2A (PP2A). The association of PP2A was studied further in several experiments and its association has been confirmed.Conclusion: PP2A is a highly conserved serine/threonine phosphatase that regulates a variety of cellular processes, including signal transduction, control of DNA replication, apoptosis and cell cycle progression. We have found the association of this protein with Chk2. This association indicates that PP2A is involved in controlling cell cycle. Further’studies is required to investigate the involvement of this protein in human cancer.

Background and Objectives: Intussusception is one of the most common cause of GI tract obstructions in infants and young children. Delayed diagnosis or treatment of intussusception may lead to death and chance of recovery is related directly to the wasted time before resuscitation . More infants would be recovered if they had been treated within 24 hours. However, the rate of mortality and morbidity would be rapidly increased after this period, especially after the second day. Therefore, the early diagnosis and the treatment are of great importance.Materials and Methods: In this survey, we studied statistically and retrospectively the diagnostic and therapeutic procedures of 50 children under 10 years old, at childern Hospital in Tabriz from 1998 - 2000.Results: The majority of patients were aged 6-12 months (36%), with male preponderance (1.94/1) and 74% of all patients had normal weights. The most common type of intussuseption was ileocolic. In 10% out of cases there was a history of Uiral infection. Abdominal pain 100%, anorexia 78%, and malaise 76% were the most common complaints respectively. There was seen bloody jelly stool in 56% out of the cases. Unfortunately, in 60% of the cases, there was a delay more than 24 hours In 44%, of cases intussusception confirmed by sonography and in 64% out of the cases primary and definit diagnosis had concordance. In 33 cases (66%) treatment established through surgery and in 2 cases (4%) replacement was with serum enema under sonography, and in 3 cases(6%) replacement with barium enema under sonography has been done. Mortality occurred in 4 cases (8%) and complication after operation was observed in 4 cases (8%).Conclusion: Accurate and prompt indentification of infants with intussuseption will enable these patients to be treated earlier with reduced morbidity and mortality.

Background and Objectives: Prevalence of medical disorders in psychiatric patients is significantly greater than general population and causes significant morbidity and mortality in them. This study was carried out to assess the agreement rate in the primary diagnosis of medical problem(s) in psychiatric patients among the residents of psychiatry.Materials and Methods: One hundrend seventeen psychiatric patients were interviewed in the morning reports at Razi psychiatric hospital of Tabriz University of Medical Sciences. They were evaluated individually by residents for mental status examination. Propable diagnosis in axis III was recorded in a questionnaire. Collected data were analysed regarding the average agreement among residents by ICC (Intraclass Correlation Coefficient). Analysis of variance was also done to estimate the effects of a group of factors, including patient’s personal characteristics, resident s personal characteristics, as well as mental status assessments by residents upon final agreement in diagnosis.Results: According to ICC, agreement rate among residents in diagnosis of medical illness was moderate (ICC: 0.42). Second and third-degree residents agreed significantly less than the first degree ones. Azari speaking residents agreed significantly more than other residents. The rate of agreement among female residents was significantly more than male residents. Personal characteristics of the patients were not significantly important in explaining diagnostic differences. In mental status examination, only "appearance" and "attitude" were partially important.Conclusion: Diagnosis on axis III by residents of psychiatry is almost unreliable. This study shows the need for further attention of educational-directors in motivating the residents to focus on medical problems in psychiatric patients.

Background and Objectives: Peripheral neuropathy (PN) is one of the common late complications of diabetes mellitus, including distal symmetric sensory polyneuropathy and cranial neuropathy. Cranial nerves III , V and VII are among the most commonly affected in diabetic patients. Electrodiagnostic (Edx) studies are useful methods for diagnosis of PN and symptomatic cranial neuropathy, but not for subclinical involvement of cranial nerves. The goal of this study was to evaluate the role of blink reflex (BR) for early diagnosis of cranial neuropathy in diabetic patients compromised with PN.Materials and Methods: A prospective study was performed on diabetic patients (type II) with a PN. Patients were excluded if they had previous clinical nerve lesions, stroke, other diseases with PN, or were treated with drugs known as potentially causing PN. Routine nerve conduction studies were performed and only patients with PN were included in the study. Results: forty six diabetic patients were included in our study. The control group consisted of 142 subjects. We found abnormal BR in 54.4% of patients. R1, IR2 and CR2 were more prolonged than the control group (p<0.001). R/D ratio did not differ statistically compared to the control group (p = 0.201). Also there was a positive correlation between R1, IR2 and CR2 latencies with duration of diabetes and severity of PN, but not for R/D. The greatest correlation was shown in R1 latency (69.9% abnormality).Conclusion: BR is a noninvasive and very useful method for evaluation and diagnosis of subclinical cranial nerve involvement in diabetic patients.

Background and Objectives: Although laboratory animals have been used to overcome to the some limitations such as shortage of the period of study and the absence of a well-controlled intervention in food pattern human studies, the effects of meal frequency on lipid profiles has not investigated in laboratory animals. Therefore, the aim of this study was to investigate the effects of meal frequency on lipid profiles in rats.Materials and Methods: Thirty female Wistar rats aged 11 weeks (210 ± 15 g), after 10 days acclimation period were weighed and randomly assigned into two equal groups. They were fed the same food as eight meals at 2-hour intervals starting from 6 pm (nibbling group) or as two meals at 9 pm and 6 am (gorging group) for 60 days. Before and at the end of intervention, the serum lipid levels were determined enzymatically. During the study period, the amount of daily food and water intake were recorded. The results were compared with each other using student’s t-test. Results: The food and water intakes were non-significantly lower in gorging group than nibbling group. Nibbling regimen caused a reduction in the total cholesterol, triglyceride and LDL-cholesterol levels, whereas these parameters increased during gorging regimen. However, none of these changes was significant. There was a significant increase (p<0.05) in total cholesterol and HDL-cholesterol levels in gorging regimen compared to nibbling regimen.Conclusion: According to the results obtained, there is no major difference between nibbling and gorging dietary regimens with respect to lipid profiles.

Background and Objectives: The Ministry of Health and Medical Education has assigned the course of home birth in the curricula of midwifery educational programs in order to improve care of mothers during childbearings. However, the rate of planned home births at rural areas of East-Azerbaijan has been 22/9% and in the urban regions has not been known. Therefore, this study was conducted to determine the attitudes of midwives, midwifery students, pregnant and new parturient women to home birth.Materials and Methods: This is a descriptive- comparative study which determined the attitudes of 721 subjects, included 91 midwives occupied in Medical Health Centers, 80 midwifery students who had passed home birth course, 550 pregnant or new parturient women registered in health care and had record in Medical Health Centers. Total population of midwives and midwifery students were chosen as samples and women were selected through cluster sampling. A questionnaire was used for data gathering. Descriptive statistics (frequencies, mean and standard deviation) and inferential statistics (chi square and Fisher Test) were used for data analysis.Results: The study showed that 54.6% out of midwives, 65.8% out of midwifery students and 13.7% out of women agreed with home as a suitable place for confinement. The majority of subjects believed that giving birth in hospital were safer than at home. The comparison of three groups on the advantage and disadvantage of home birth showed statistically significant difference in 16 statements (15 statements with p<0.0001 and 1 statement with p<0.005) and no significant difference in 1 statement (p>0.05) of questionnaire.Conclusion: Based upon the results of this study it can be concluded that further information is necessary for women to make a free and informed choice of birthplace. Therefore, midwives and midwifery students should be knowledgeable about home birth. Besides, the Ministry of Health and Medical Education should provide home birth facilities and equipments.

Background and Objectives: Throughout the ages man was familiar with solidarity. The relationship among people gives beauty to life and makes it meaningful. One of these relationships is that of bonding between mother and infant which is present in every social group such as mammals and every other animals. This study was conducted to consider the rate of birth attendants contribution in facilitating the first and the second phases of bonding process between mother and infant in the first hour of brith.Materials and Methods: This is a descriptive study on one hundred midwives, medical and midwifery students of Tabriz Azad University and Medical Sciences in delivery rooms of Taleghani and AL-Zahra hospitals in Tabriz. Stratified random sampling from 320 research population was the method of study. The data collection tools consisted of observation form for collecting demographic characteristics and observation form for recording the characteristics of brith attendants behaviors.Results: The results of the study indicated that the rate of contribution in bonding process was 26.25%. This rate in the first phase of bonding process reached 19.2% and in the second phase reached 31.3%. So senior midwifery students had the most contribution of all having 48.7 percentage.Conclusion: Midwives can practice in training courses to facilitate bonding process between mother and infant in order to prevent reactive infancy or childhood attachment disorders.

Background and Objectives: Coronary atherosclerosis is one of the most prevalent causes of deaths worldwide. It is necessary to find simple, inexpensive, and accessible procedures for preventing atherosclerosis. The purpose of this study was to determine vegetarian diet effects on the coronary atherosclerosis in angiographically documented patients.Materials and Methods: Thirty two patients (mean age about 51.7 yrs) that for clinical reasons had coronary angiography were randomly assigned into a low fat vegetarian diet (15 cases including 11 men and 4 women) and an usual diet control group (17 cases including 15 wen and 2 women). The vegetarian group was recommended to consume only vegetarian diet and no animal diet. The control group was free to consume any food. Coronary angiography was done at the beginning and the end of the study and coronary atherosclerotic lesions were analyzed by visual assessment. Total cholestrol, LDL, HDL, Triglyceride, BMI and anginal class were determind at the beginning and the end of the study.Results: Total cholestrol, LDL BMI and anginal class decreased significantly in the vegetarian group and did not change significantly in the control group. HDL did not change significantly in both groups. Triglyceride was decreased significantly in the control group but not in the vegetarian one. Mean cross sectional percent stenosis of the atherosclerotic lesions increased significantly in the vegetarian group (about 3%, P ≈ 0.549) and significantly in control group (about 35%, P ≈ 0.000). Coronary atherosclerotic lesions in the vegetarian group progressed in 40% out of cases, stabilized in the 27% and regressed in the 32% of patients. In the control group all the lesions progressed.Conclusion: This study showed the beneficial effects of the vegetarian diet on the regression of coronary atherosclerosis and in decreasing cholesterol, LDL, BMI and anginal class.

Background and Objectives: Uranium is one of the most important and numerous natural radioelements in earths crust and most of water resources especially groundwater and mineral water contain the dissolved compounds of this radionuclide. The importance of health presence environmental natural uranium and thereby receiving radiation by human water consumption increased the probability of development of various cancers and nephric diseases. Maximum Containment Level (MCL) determined by United States Environmental Protection Agency (USEPA) for uranium in drinking water is 20 ppb. Mineral water according to geology characteristics contain different quantities of uranium. This research was accomplished in order to measure uranium concentration in mineral water of Ardabil province and provide foundation for the next researches. Materials and Methods: This research was conducted on the basis of information collecting regarding radioactivity quality of mineral water, sampling from mineral water of Ardabil province (20 springs) with standard methods uranium was measured using Laser Fluorimetry (LF).Results: Uranium concentration in Sarien mineral water (9 hot springs) were in the range of 0.3 - 0.47 ppb, in Meshkinshahr mineral water (5 hot springs) were in the range of 0.42-0.92 ppb and in Sardabeh, Givi, Ghaynarjeh and Borjlo of Nir mineral springs ordering 0.28,0.43,0.8 & 0.92 ppb, respectively.Conclusion: Uranium concentration in all mineral and water of Ardabil province was found less than MCL of uranium in water resources.

Background and Objectives: Brucllae are among the most important pathogenic bacteria for both humans and animals. They often enter the human body through contaminated dairy products.Therefore, the hygiene of such food stuff is of prime importance in controlling human brucellosis. In most parts of Iran a high proportion of cheese production is still based on the traditional methods, in which the raw milk is used, and this could be considered as a major source of contamination. Application of salt (brine) and acid or alkali for preservation of foods including cheese has long been exercised, though, the rate of their effects particularly in combinations on the Brucella has not been studied so far. However, such studies have been carried out on the other bacteria by gradient plate technique which have led to some interesting results.Materials and Methods: The present study was designed to investigate the effect of pH and NaCl concentration, individually and in combination, on the growth of Brocella abortus (544,S.19) mellitensis (16M,Rev1) and suis (1330) (obtained from Razi Institute), using one and two dimensional gradient plates. The bacterial growth rates at any part of the gradient plates were measured by taking cores of samples with a cork borer and measuring their optical density at 550 nm. These data with regard to pH and Nacl variants which were determined by relevant techniques, were analysed by the Corel Chart computer programme in forms of three dimensional graphs.Results: The amount of growth for each strain at any given pH or NaCl concentration was some what different from other strains. The domain and the amount of growth for all tested strains at any given point of the two dimensional pH-NaCl gradient plates clearly showed that these factors were suppressing growth in a synergestic manner . The range of decrease in growth was varied from 63% to 95% for B. suis and B. mellitensis respectively.Conclusion: when the two factors (pH and NaCl) were acting together, their growth suppression effect could be up to twenty times higher than that of any factor alone. Among the tested strains, B. mellitensis (Rev1) and B. suis (1330) were the most and the least affected by the above-mentioned factors respectively.

Background and Objectives: Applying DNA based markers specially PCR dependent techniques including Random Amplified Polymorphism DNA (RAPD) is one of the powerful tools for studying genetic variations in living organisms. The aim of this study was to identify genetic variations among different isolated Fusarium Oxysporum species by using molecular markers of RAPD. Materials and Methods: 15 strains of Fusarium oxysporum were used in this research. Using modified Dellaporta method performed DNA extraction. After PCR amplification, to study the pattern of DNA polymorphism, the PCR products were ran on 2% agarose gel electrophoresis along with using DNA size marker. For statistic analysis of RAPD products applying SPSS software used Ward procedure.Results: The obtained results by using 12 primers, all strains were divided into three groups. These results showed that the west provinces of the country have similar pattern of DNA polymorphism whereas all strains with having low genetic diversity were put in the same group. However, the isolated strains of east-west provinces of Iran because of having different patterns of polymorphism were located in three different groups. Conclusion: Comparison of RAPD pattern, in strains, based on geographical area showed an association between RAPD patterns of strains obtained from west parts of Iran with geographical origin. On the other hand, RAPD could be able to recognize the difference between isolated strains of this area with other locations.

Background and objectives: The orbital complication of paranasal sinusitis is rare, but any delay in diagnosis may leads to visual loss and is life threatening. Periorbital cellulitis primarily affects the young children. This study was conducted to evaluate the treatment outcomes.Materials and Methods: In this case series, 42 consecutive patients with orbital cellulitis secondary to sinusitis in two University-Hospitals of Tabriz University of Medical Sciences managed from June 1998 to Feb 2001were reviewed. Visual acuity with correction, clinical signs, methods of paraclinical and treatment were through a questionnaire. All Patients had similar findings: periorbital edema, erythema, proptosis and pain.Results: Fifty seven point one percent of patients were male and 42.9 percent were female. The patients’age ranged from 7 months to 68 years (50.1% were under ten years). Thirty three cases received medical and surgical treatments. The most common involved sinuses were maxillary and ethmoid (18 patients). After treatment, 78.6 percent of patients acquired complete recovery in the first week with penicillin G and metronidazole.Conclusion: Orbital cellulitis treated with antibiotics, but subperiosteal abscess is usually treated by incision and drainage and parentral antibiotics. CT and MRI commonly used in the diagnosis of orbital infections. Orbital cellulitis is a relatively common and potentially serious disease in children. Early surgical intervention is indicated if there is a risk of visual loss, or if no improvement is observed within 48 hours of starting medical therapy.  

Background and objectives: pregnancy-induced hypertention and preeclampsia account for about 25% of perinatal morbidities and are leading cause, of maternal deaths in the developing countries. Even in the developed countries death still occurs due to eclampsia. The report of maternal death in the United Kingdom has suggested that substandard care could be implicated in up to 80% of these deaths. The effectiveness of perinatal care on pregnancy outcomes has been described through many observational studies over several years. However, the ways in which the timing and contents of these cares contribute to outcomes have not been determined yet. The purpose of this study was to assess the quality of perinatal cares at Alavi hospital in Ardabil.Materials and methods: The study was done on 255 cases with preeclampsia - eclampsia at Alavi hospital during 2000-2001 by completing checklists. One for hospital dossier and the other for health dossier.Results: The most frequent of preeclampsia belonged to the cases who had perinatal cares during pregnancy (63%). Frequency of severe and mild preeclampsia was found to be the same in all the cases. In cases with insufficient cares, the frequency of severe preeclampsia was twofold more than of mild ones. 90% of eclampsia belonged to the group with insufficient cares. The prevalence of preeclampsia - eclapmsia was estimated 12% at Alavi hospital from which 49.8% were severe, 43.3% mild and 7.9% eclamptic. 59% out of cases belonged to rural places and the rest (41%) belonged to urban population. The severity was 62% in rural and 42% in urbans. Most of Women with preeclampisa and eclampsia were tthose who with the mean age of 25, primipar, with the mean body weight of 75 kg, housekeeper as well as primary school education level. The majority of them had a history of HTN. Conclusion: preeclampsia - eclampsia prevalence in Ardabil city was more than world standards and although the majority of pregnant women in Ardabil reffer to health centers during pregnancy but a few of them obtain the sufficient cares.

Background and objectives :In various lesions of spinal column such as trauma, degenerative diseases, spinal column infection, and tumors we may need spinal fusion. We can use various instruments such as pedicle screws for fusion. This instrument has advantage and disadvantage. The purpose of this study was to determine the results and complications of pedicle screw instrumentation in spinal fusion.Materials and methods: In the past 2.5 years, 35 patients were operated through this instrument in Tabriz Shohada hospital and evaluated regarding to age, sex, the cause of surgery, early and the late complications occurred. The result of fusion were determined.Results: From 35 patients there were 19 women and 16 men and the mean age was 38.2 years old. The highest incidence use of pedicle screw was in the treatment of spondylolysthesis and traumatic spinal column lesions (80%). The lumbar spine was the common site of spinal column involvement (51%). Appropriate fusion was seen in 94.2% out of cases. In these patients the early and late complications, superficial and deep wound infections, neurological deficits and instrument failure were assessed. Instrument failure was observed in two patients.Conclusion: the use of pedicle screw fixation successfully combines the goal of solid fusion with the requirement of correcting spinal alignment and the result is better than other spinal fusion techniques. It also enables short segment fusion. Use of appropriate technique and surgeons increasing experience may reduce the complications.

Background and Objectives: Leptin is a peptide hormone secreted by an adipose tissue. It acts as a satiety signal to hypothalamus and informs the central nervous system about the amount of fat mass. Insulin and leptin play important roles in controlling body weight. In this study we assessed the effects of insulin on plasma levels of leptin in diabetic rats.Materials and Methods: Diabetes was induced in 15 male Sprague Dawley rats with intraperitoneal injection of 50 mg/kg streptozotocin (STZ). Then rats were divided into three groups: 1) non-treated, 2) insulin 10u/kg/day treated and 3) insulin 20u/kg/day treated. One blood sample before and three blood samples with one-day interval after induction of diabetes were collected from eye angle of rats. Results: Analysis of data indicated that: 1) before induction of diabetes there was no significant difference in the mean levels of leptin, insulin and glucose among groups, 2) after induction of diabetes, plasma levels of leptin and insulin was lower significantly in non-treated diabetic rats compared with treated rats (p<0.05), while glucose levels were higher significantly in non-treated rats (P<0.05), 3) insulin treatment maximally after 2 hours produced a significant increase in plasma leptin concentrations, and 4) in 20u/kg/day insulin treated rats plasma levels of leptin and insulin were higher, while glucose was lower significantly (p<0.05) compared with 10u/kg/day insulin treated rats. Conclusion: In conclusion, this study showed that insulin is one of the necessary factors that may act by transferring of glucose into the adipose cells, so glucose as intracellar signal stimulates leptin secretion from adipose tissue of STZ-diabetic rats. This stimulatory effect of insulin on leptin secretion acted maximally 2 hours after subcutaneous injection of insulin to STZ-diabetic rats.

Background and Objectives: This study was performed to investigate the hearing loss among the medical students of Tabriz University of Medical Sciences. Materials and Methods: In this study, 262 students of Medicine were randomly selected from different years of their medical education and were assessed through audiometry and tympanometry tests to find out if/why they experience any hearing loss.Results: The study revealed that the amount of hearing loss among these students was 9.5 percent, which was higher than the mean of hearing loss in the community in general. This was attributed to the noise pollution. The study also considered the awareness and behaviour of the statistical population about their hearing level comparing the results with those of the clinical and paraclinical examinations.Conclusion: It is proposed that audiometric examinations to be carried out along with vision examinations.

A 21-year-old man and a 16-year-old girl (sibling) developed generalized relatively slow, undulating and worm - like movements of the muscles (myokymia), cramps and stiffness since childhood. Myokymia was continued during sleep. Symptoms exacerbated with unoptimal temprature of enviroment (cold, warm), physical activity and sleep awakening at morning. They had excessive sweating and limited physical activity. The male patient developed a diffuse subcutaneous nodules and symmetric muscular hypertrophy (quadriceps and calf) and carpopedal spasm. There was ankle joint contracture, without significant sensory and motor abnormalities, absent ankle reflex and reduced other deep tendon reflexes, high arch feet and normal laboratory tests.Nerve conduction study showed low amplitude and slowing of sensory and motor responses, F waves and H-reflexes with repetitive-after-discharge, especially in lower limbs and normal repetitive stimulation test. Electromyography displayed a significant spontaneous activity including myokymic, neuromyotonic, doublet, triplet discharges with neurogenic motor unite action potentials. Significant improvement was seen with carbmazepine.

Homozygous familial hypercholesterolemia (HFH) is a rare disease. It might result in fatal myocardial infarction or severe aortic stenosis even in childhood. General physical examination of a 19-year-boy patient and his first degree relatives was preformed. Appropriate paraclinical studies including lipid profile, electrocardiogram, exercise tolerance test and selective coronary angiography were accomplished. A very high level of total and low density lipoprotein along with xanthomas at presence of strong familial history is in favor of HFH. In our patient presence of severe Coronary artery disease, documented by angiography, confirmed our initial clinical impression. Multiple skin xanthomas at young age group patients imply severe lipid metabolic disorder.

Sleep apnea is defined as an intermittent cessation of airflow at the nose and mouth during sleep.Sleep apneas have been classified into three types: central, obstructive, and mixed. In obstructive sleep apnea (OSA) airflow ceases despite continuing respiratory drive because of occlusion of the oropharyngeal airway. In contrast, in central sleep apnea (CSA) the neural drive to all the respiratory muscles is transiently abolished.Ondine curse is a loss of automatic or involuntary respiration during sleep. Sleep apnea and Ondine curse are rare presentations of type 1 Chiari malformation, and almost all reported cases were due to type 2 of malformation. Here we report a case of sleep apnea and Ondine curse in a patient with Chiari malformation type 1.