Alagille syndrome case report: implications for forensic pathology and anthropology.

Science.gov (United States)

Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

2015-05-01

This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

Infection and acute respiratory distress syndrome during pregnancy: a case series of preventable maternal deaths from southern India.

Science.gov (United States)

Vasudeva, Akhila; Bhat, Rajeshwari G; Ramachandran, Amar; Kumar, Pratap

2013-02-01

Acute respiratory distress syndrome (ARDS) is common among women admitted to obstetric intensive care units, and it contributes significantly, both directly and indirectly, to maternal deaths. We present a case series of ARDS in pregnant women caused by non-obstetric causes. The women were treated at a tertiary hospital in southern India. The striking features were delayed referral from the primary care unit and the lack of a primary diagnosis or treatment. Undiagnosed rheumatic heart disease, anemia, and malaria and H1N1 epidemics contributed to these cases of ARDS and maternal death. It is necessary to increase the awareness of evidence-based uniform protocols to tackle common medical complaints during pregnancy. Copyright © 2012 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

Phrenic nerves and diaphragms in sudden infant death syndrome.

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Weis, J; Weber, U; Schröder, J M; Lemke, R; Althoff, H

1998-01-30

Disturbances of the respiratory system may be an important factor in the cascade of events leading to sudden infant death syndrome (SIDS). Even though the diaphragm is the major respiratory muscle in infants, little is known about alterations of this muscle and of the phrenic nerve in SIDS. In the present study, diaphragms and phrenic nerves of 24 SIDS infants and seven controls were analyzed. Morphometric analysis revealed only slightly larger cross sectional areas of phrenic nerve axons but no increase in myelin sheath thickness in SIDS cases. However, in one SIDS case, myelinated nerve fibre density was severely reduced. Using electron microscopy, several nerve fibres of SIDS infants showed focal accumulations of neurofilaments. Muscle fibre diameters in SIDS diaphragms were significantly larger compared to controls (P fibre ruptures and contracture bands were found. These prominent nonspecific ultrastructural alterations should advise caution in the interpretation of morphometric data. Thus, in some cases exemplified by one case of the present series, decreased density of phrenic nerve myelinated axons might contribute to SIDS. Still, the present results indicate that development of phrenic nerves and diaphragms is not delayed in most SIDS infants.

Symptoms Before Sudden Arrhythmic Death Syndrome

DEFF Research Database (Denmark)

Glinge, Charlotte; Jabbari, Reza; Risgaard, Bjarke

2015-01-01

INTRODUCTION: No studies in an unselected and nationwide setting have characterized the symptoms and medical history of patients with sudden arrhythmic death syndrome (SADS). The aim of this study was to identify and describe the symptoms and medical history of patients before the presentation......%), palpitations (n = 2, 1%), presyncope/syncope (n = 23, 17%), and aborted SCD (n = 2, 1%). In addition, seizures (n = 25, 18%) were prevalent. In 61 (45%) SADS cases, no previous medical history were recorded. CONCLUSION: In this unselected, nationwide study of 136 young SADS patients, 35% had experienced...

Esophageal cancer among Brazilian agricultural workers: case-control study based on death certificates.

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Meyer, Armando; Alexandre, Pedro Celso Braga; Chrisman, Juliana de Rezende; Markowitz, Steven B; Koifman, Rosalina Jorge; Koifman, Sergio

2011-03-01

Several studies suggest that agricultural workers are at higher risk to develop and die by certain types of cancer. Esophageal cancer is not commonly listed among these types. However, some recent studies indicated that if there is an association between agricultural working and esophageal cancer, it s more likely to be observed among workers highly exposed to pesticides. In the present study, the magnitude of the association between agricultural working and esophageal cancer mortality was evaluated in a high pesticide use area in Brazil, through a death certificate-based case-control study. Cases were individuals from both genders, 30-59 years old, for whom basic cause of death was ascertained as cancer of the esophagus. For each case, one control was randomly selected from all possible controls for which the basic cause of death was ascertained as different from neoplasm and diseases of the digestive system. In addition, controls matched their cases by sex, age, year of death, and state of residence. Crude and adjusted odds ratios were then calculated to estimate the magnitude of the risk. Results showed that, in general, agricultural workers were at significantly higher risk to die by esophageal cancer, when compared to non-agricultural workers. Stratified analysis also revealed that the magnitude of such risk was slightly higher among illiterate agricultural workers, and simultaneous adjustment for several covariates showed that the risk was quantitatively higher among younger southern agricultural workers. These results suggest the esophageal cancer may be included among those types of cancer etiologically associated to agricultural working. Copyright © 2010 Elsevier GmbH. All rights reserved.

Dialysis Disequilibrium Syndrome: Brain death following hemodialysis for metabolic acidosis and acute renal failure – A case report

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Bagshaw Sean M

2004-08-01

Full Text Available Abstract Background Dialysis disequilibrium syndrome (DDS is the clinical phenomenon of acute neurologic symptoms attributed to cerebral edema that occurs during or following intermittent hemodialysis (HD. We describe a case of DDS-induced cerebral edema that resulted in irreversible brain injury and death following acute HD and review the relevant literature of the association of DDS and HD. Case Presentation A 22-year-old male with obstructive uropathy presented to hospital with severe sepsis syndrome secondary to pneumonia. Laboratory investigations included a pH of 6.95, PaCO2 10 mmHg, HCO3 2 mmol/L, serum sodium 132 mmol/L, serum osmolality 330 mosmol/kg, and urea 130 mg/dL (46.7 mmol/L. Diagnostic imaging demonstrated multifocal pneumonia, bilateral hydronephrosis and bladder wall thickening. During HD the patient became progressively obtunded. Repeat laboratory investigations showed pH 7.36, HCO3 19 mmol/L, potassium 1.8 mmol/L, and urea 38.4 mg/dL (13.7 mmol/L (urea-reduction-ratio 71%. Following HD, spontaneous movements were absent with no pupillary or brainstem reflexes. Head CT-scan showed diffuse cerebral edema with effacement of basal cisterns and generalized loss of gray-white differentiation. Brain death was declared. Conclusions Death is a rare consequence of DDS in adults following HD. Several features may have predisposed this patient to DDS including: central nervous system adaptations from chronic kidney disease with efficient serum urea removal and correction of serum hyperosmolality; severe cerebral intracellular acidosis; relative hypercapnea; and post-HD hemodynamic instability with compounded cerebral ischemia.

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study.

Science.gov (United States)

Palma, Jose-Alberto; Norcliffe-Kaufmann, Lucy; Perez, Miguel A; Spalink, Christy L; Kaufmann, Horacio

2017-08-01

Sudden unexpected death during sleep (SUDS) is the most common cause of death in patients with familial dysautonomia (FD), an autosomal recessive disease characterized by sensory and autonomic dysfunction. It remains unknown what causes SUDS in these patients and who is at highest risk. We tested the hypothesis that SUDS in FD is linked to sleep-disordered breathing. We retrospectively identified patients with FD who died suddenly and unexpectedly during sleep and had undergone polysomnography within the 18-month period before death. For each case, we sampled one age-matched surviving subject with FD that had also undergone polysomnography within the 18-month period before study. Data on polysomnography, EKG, ambulatory blood pressure monitoring, arterial blood gases, blood count, and metabolic panel were analyzed. Thirty-two deceased cases and 31 surviving controls were included. Autopsy was available in six cases. Compared with controls, participants with SUDS were more likely to be receiving treatment with fludrocortisone (odds ratio [OR]; 95% confidence interval) (OR 29.7; 4.1-213.4), have untreated obstructive sleep apnea (OR 17.4; 1.5-193), and plasma potassium levels Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

On the Question of the Diagnosis of Sudden Infant Death Syndrome

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L. L. Nisevich

2015-01-01

Full Text Available Sudden Infant Death Syndrome (SIDS is one of the leading causes of postneonatal mortality of infants in most developed countries. This paper presents data on terminology and on the study of SIDS in developed countries, and also examines problems of SIDS diagnostic inRussia in comparison with the results of own researches, analyzes risk factors, which are universal as for SIDS, and also for perinatal and infant death in general. The large variability of SIDS diagnosis in Russia suggests that this diagnosis often does not comply with international standard: post-mortem examination of community-acquired sudden death cases is often carried out by a forensic expert, but not by a children's pathologist, and they do not use virological and microbiological methods of investigation. In some cases, there is no infant's record or case record from children's polyclinic.

Definition of Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes (SIDS and SIUDS with Regard to the Anatomo-Pathological Examination

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Giulia Ottaviani

2016-09-01

Full Text Available Crib death, or sudden infant death syndrome (SIDS, is the most frequent form of death in the first year of life, striking one baby in every 1,700–2,000. Yet despite advances in maternal-infant care, sudden intrauterine unexplained/unexpected death syndrome (SIUDS, has a six-eightfold greater incidence than that of SIDS. Frequent congenital abnormalities, likely morphological substrates for SIDS-SIUDS, were detected, mainly represented by alterations of the cardiac conduction system, such as accessory pathways and abnormal resorptive degeneration, and hypoplasia/agenesis of the vital brainstem structures. On the basis of these considerations, the new common definition of the SIDS-SIUDS complex is The sudden death of a fetus after the 25th gestational week or infant under one year of age which is unexpected by history and remains unexplained after a thorough case investigation, including examination of the death scene, performance of a general autopsy and examination of the fetal adnexa. Therefore, given that the general autopsy does not disclose any cause of death, a more in-depth histopathological analysis of the cardiac conduction system and autonomic nervous system by specialized pathologists will become necessary.

A fatal case of Perthes syndrome

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Jérôme Jobé

2013-01-01

Full Text Available Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident.

Otolaryngological aspects of sudden infant death syndrome.

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Marom, Tal; Cinamon, Udi; Castellanos, Paul F; Cohen, Marta C

2012-03-01

Sudden infant death syndrome (SIDS) is characterized by the sudden death of an apparently otherwise healthy infant, typically during sleep, and with no obvious case after a thorough post-mortem and scene death examination. To address the problem from the otolaryngologist's perspective, describe relevant pathologies, discuss controversies and suggest preventive measures in high-risk populations. A MEDLINE search and hand search were conducted to identify reports published between 1969 and 2011 in the English language on the pathophysiology of SIDS related to the head and neck organs. Search terms included SIDS (MeSH term), SIDS and pathophysiology (text words), and SIDS and autopsy (text words). A growing number of reports suggested head and neck organs involvement in SIDS autopsies. Laryngeal, oropharyngeal, maxillofacial, otologic, cervical vascular abnormalities and infectious etiologies, were recognized and discussed. Otolaryngologists should be aware of relevant pathologies, as some are treatable, if identified early enough in infancy. A proactive risk-management approach is warranted in infants presenting with certain abnormalities reviewed here. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Case-control study of cancer deaths in high background radiation areas of China

International Nuclear Information System (INIS)

Tao Zufan; Cha Yongru; Zhou Shunyuan

1989-01-01

This paper presents the results of a case-control study of deaths from liver, stomach and lung cancers in the high background radiation areas (HBRA) in Yangjiang County and neighboring control areas (CA). The purpose of this study was to explore the probable relationship between the cancer deaths and the environmental mutation-related factors in the two areas, so that the role of elevated natural radiation in cancer mortality could be properly ascertained. The studied numbers of cases of liver, stomach and lung cancers were 64, 28 and 17 in HBRA, and 75, 36 and 13 in CA, respectively. The proportion of the number of cases to that of the controls was 1:1 for liver cancer and 1:2 for cancers of stomach and lung. The factors studied included pesticide, smoking, alcohol consumption, medical X-ray exposure, diet, and the socioeconomic status, such as occupation, education, economic income, living space etc. The data for this study were collected through interviewing. The data collected were analysed by methods of matched and unmatched studies. The results expressed by odds ratio (OR) show that there is no significant between most factors studied and cancer deaths, although the associations of desths from stomach cancer with drinking water of nonwell source and of lung cancer with alcohol consumption in HBRA, and the associations of liver cancer deaths with occupations involving poisonous and noxious substances, pesticide and alcohol, and of lung cancer with pesticide and lower family income in CA can be found. This study has provided some clues for explaining the difference in cancer mortalities between HBRA and CA

Pfeiffer syndrome type 2: case report

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Maria Kiyoko Oyamada

Full Text Available OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

Nitrate in drinking water and risk of death from bladder cancer: an ecological case-control study in Taiwan.

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Chiu, Hui-Fen; Tsai, Shang-Shyue; Yang, Chun-Yuh

2007-06-01

The relationship between nitrate levels in drinking water and bladder cancer development is controversial. A matched cancer case-control with nitrate ecology study was used to investigate the association between bladder cancer mortality occurrence and nitrate exposure from Taiwan drinking water. All bladder cancer deaths of Taiwan residents from 1999 through 2003 were obtained from the Bureau of Vital Statistics of the Taiwan Provincial Department of Health. Controls were deaths from other causes and were pair-matched to the cases by gender, year of birth,and year of death. Each matched control was selected randomly from the set of possible controls for each cancer case. Data on nitrate-nitrogen (NO3-N) levels in drinking water throughout Taiwan were collected from Taiwan Water Supply Corporation (TWSC). The municipality of residence for cancer cases and controls was assumed to be the source of the subject's nitrate exposure via drinking water. The adjusted odds ratios for bladder cancer death for those with high nitrate levels in their drinking water were 1.76 (1.28-2.42) and 1.96 (1.41-2.72) as compared to the lowest tertile. The results of the present study show that there was a significant positive relationship between the levels of nitrate in drinking water and risk of death from bladder cancer.

Cardiovascular causes of maternal sudden death. Sudden arrhythmic death syndrome is leading cause in UK.

Science.gov (United States)

Krexi, Dimitra; Sheppard, Mary N

2017-05-01

This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. The mean age was 30±7 years with a range from 16 to 43 years. About 30% were 35 years old or older; 50% of deaths occurred during pregnancy and 50% during the postpartum period. About 59.18% were obese or overweight where body mass index data were available. The leading causes of death were sudden arrhythmic death syndrome (SADS) (53.75%) and cardiomyopathies (13.80%). Other causes include dissection of aorta or its branches (8.75%), congenital heart disease (2.50%) and valvular disease (3.75%). This study highlights sudden cardiac death in pregnancy or in the postpartum period, which is mainly due to SADS with underlying channelopathies and cardiomyopathy. We wish to raise awareness of these frequently under-recognised entities in maternal deaths and the need of cardiological screening of the family as a result of the diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

Dyslipidaemia in woman with polycystic ovarian syndrome: a case control study in tertiary care hospital of Karachi.

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Hussain, Amna; Alam, Junaid Mahmood

2014-09-01

To compare lipid profile in lean and obese women with polycystic ovary syndrome with normal weight and obese controls. The case-control study was conducted at the Department of Chemical Pathology, Liaquat National Hospital, Karachi, from March 2006 to April 2007. It comprised 50 cases of polycystic ovary syndrome along with 50 healthy controls matching for age, gender and weight. SPSS 14 was used for statistical analysis. The mean fasting levels of triglyceride and Low density lipoprotein cholesterol were considerably higher in women with polycystic ovary syndrome than those in the control group (p polycystic ovary syndrome, obesity and triglyceride levels (p Polycystic ovary syndrome is associated with a more pronounced atherogenic lipid profile. Lipid parameters were adversely affected in a subgroup that was obese. As such, women with polycystic ovary syndrome are at high risk of developing cardiovascular disease due to the presence of dyslipidaemia.

Risk factors associated with neonatal deaths: a matched case-control study in Indonesia.

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Abdullah, Asnawi; Hort, Krishna; Butu, Yuli; Simpson, Louise

2016-01-01

Similar to global trends, neonatal mortality has fallen only slightly in Indonesia over the period 1990-2010, with a high proportion of deaths in the first week of life. This study aimed to identify risk factors associated with neonatal deaths of low and normal birthweight infants that were amenable to health service intervention at a community level in a relatively poor province of Indonesia. A matched case-control study of neonatal deaths reported from selected community health centres (puskesmas) was conducted over 10 months in 2013. Cases were singleton births, born by vaginal delivery, at home or in a health facility, matched with two controls satisfying the same criteria. Potential variables related to maternal and neonatal risk factors were collected from puskesmas medical records and through home visit interviews. A conditional logistic regression was performed to calculate odds ratios using the clogit procedure in Stata 11. Combining all significant variables related to maternal, neonatal, and delivery factors into a single multivariate model, six factors were found to be significantly associated with a higher risk of neonatal death. The factors identified were as follows: neonatal complications during birth; mother noting a health problem during the first 28 days; maternal lack of knowledge of danger signs for neonates; low Apgar score; delivery at home; and history of complications during pregnancy. Three risk factors (neonatal complication at delivery; neonatal health problem noted by mother; and low Apgar score) were significantly associated with early neonatal death at age 0-7 days. For normal birthweight neonates, three factors (complications during delivery; lack of early initiation of breastfeeding; and lack of maternal knowledge of neonatal danger signs) were found to be associated with a higher risk of neonatal death. The study identified a number of factors amenable to health service intervention associated with neonatal deaths in normal and low

Sudden infant death syndrome (SIDS)--standardised investigations and classification

DEFF Research Database (Denmark)

Bajanowski, Thomas; Vege, Ashild; Byard, Roger W

2007-01-01

Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variet...

The Metabolic Syndrome and Risk of Sudden Cardiac Death: The Atherosclerosis Risk in Communities Study.

Science.gov (United States)

Hess, Paul L; Al-Khalidi, Hussein R; Friedman, Daniel J; Mulder, Hillary; Kucharska-Newton, Anna; Rosamond, Wayne R; Lopes, Renato D; Gersh, Bernard J; Mark, Daniel B; Curtis, Lesley H; Post, Wendy S; Prineas, Ronald J; Sotoodehnia, Nona; Al-Khatib, Sana M

2017-08-23

Prior studies have demonstrated a link between the metabolic syndrome and increased risk of cardiovascular mortality. Whether the metabolic syndrome is associated with sudden cardiac death is uncertain. We characterized the relationship between sudden cardiac death and metabolic syndrome status among participants of the ARIC (Atherosclerosis Risk in Communities) Study (1987-2012) free of prevalent coronary heart disease or heart failure. Among 13 168 participants, 357 (2.7%) sudden cardiac deaths occurred during a median follow-up of 23.6 years. Participants with the metabolic syndrome (n=4444) had a higher cumulative incidence of sudden cardiac death than those without it (n=8724) (4.1% versus 2.3%, P metabolic syndrome, the metabolic syndrome was independently associated with sudden cardiac death (hazard ratio, 1.70, 95% confidence interval, 1.37-2.12, P metabolic syndrome criteria components. The risk of sudden cardiac death varied according to the number of metabolic syndrome components (hazard ratio 1.31 per additional component of the metabolic syndrome, 95% confidence interval, 1.19-1.44, P metabolic syndrome was associated with a significantly increased risk of sudden cardiac death irrespective of sex or race. The risk of sudden cardiac death was proportional to the number of metabolic syndrome components. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

Prenatal Alcohol Exposure and Miscarriage, Stillbirth, Preterm Delivery, and Sudden Infant Death Syndrome

OpenAIRE

Bailey, Beth A.; Sokol, Robert J.

2011-01-01

In addition to fetal alcohol syndrome and fetal alcohol spectrum disorders, prenatal alcohol exposure is associated with many other adverse pregnancy and birth outcomes. Research suggests that alcohol use during pregnancy may increase the risk of miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome. This research has some inherent difficulties, such as the collection of accurate information about alcohol consumption during pregnancy and controlling for comorbid exposure...

A population-based case-control study of mesothelioma deaths among U.S. railroad workers.

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Schenker, M B; Garshick, E; Muñoz, A; Woskie, S R; Speizer, F E

1986-09-01

We have completed a case-control analysis of mesothelioma deaths among current and retired U.S. railroad employees. Cause-specific death certificates were obtained for 87% of 15,059 deaths reported by the railroad retirement board, and 20 mesotheliomas were identified according to death certificate diagnosis. A 10:1 matched analysis with railroad workers dying of nonmalignant, nonaccidental causes yielded a very strong association with prior railroad work in jobs with potential asbestos exposure (odds ratio = 7.2, 95% lower confidence limit = 3.3). Consideration of railroad occupations with regular asbestos exposures (e.g., skilled trades, steam locomotive repair) yielded an odds ratio of 21.4 (95% lower confidence limit = 8.7), but the occupations with potential intermittent exposure (e.g., engineers, firemen, carmen) yielded a nonsignificant odds ratio of 2.3 (95% lower confidence limit = 0.5). Applying mesothelioma mortality rates from this study to the population of U.S. railroad workers at risk yields an estimate of 416 cases of mesothelioma occurring among U.S. railroad workers between 1981 and 2000.

Dyslipidaemia in woman with polycystic ovarian syndrome: A case control study in tertiary care hospital of Karachi

International Nuclear Information System (INIS)

Hussain, A.; Alam, J. M.

2014-01-01

Objective: To compare lipid profile in lean and obese women with polycystic ovary syndrome with normal weight and obese controls. Method: The case-control study was conducted at the Department of Chemical Pathology, Liaquat National Hospital, Karachi, from March 2006 to April 2007. It comprised 50 cases of polycystic ovary syndrome along with 50 healthy controls matching for age, gender and weight.. SPSS 14 was used for statistical analysis. Result: The mean fasting levels of triglyceride and Low density lipoprotein cholesterol were considerably higher in women with polycystic ovary syndrome than those in the control group (p < 0.05), while high-density lipoprotein cholesterol was significantly low in patients than the controls (p <0.001). Obese patients had high triglyceride value (p < 0.05). There was significant interaction between polycystic ovary syndrome, obesity and triglyceride levels (p < 0.05). Conclusion: Polycystic ovary syndrome is associated with a more pronounced atherogenic lipid profile. Lipid parameters were adversely affected in a subgroup that was obese. As such, women with polycystic ovary syndrome are at high risk of developing cardiovascular disease due to the presence of dyslipidaemia. (author)

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

Science.gov (United States)

Brion, Maria; Allegue, Catarina; Santori, Montserrat; Gil, Rocio; Blanco-Verea, Alejandro; Haas, Cordula; Bartsch, Christine; Poster, Simone; Madea, Burkhard; Campuzano, Oscar; Brugada, Ramon; Carracedo, Angel

2012-06-10

In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease. Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS. We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY(®) System. Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Comparative study of control selection in a national population-based case-control study: Estimating risk of smoking on cancer deaths in Chinese men.

Science.gov (United States)

Jiang, Jingmei; Liu, Boqi; Nasca, Philip C; Han, Wei; Zou, Xiaonong; Zeng, Xianjia; Tian, Xiaobing; Wu, Yanping; Zhao, Ping; Li, Junyao

2009-10-28

To assess the validation of a novel control selection design by comparing the consistency between the new design and a routine design in a large case-control study that was incorporated into a nationwide mortality survey in China. A nationwide mortality study was conducted during 1989-1991. Surviving spouses or other relatives of all adults who died during 1986-1988 provided detailed information about their own as well as the deceased person's smoking history. In this study, 130,079 males who died of various smoking-related cancers at age 35 or over were taken as cases, while 103,248 male surviving spouses (same age range with cases) of women who died during the same period and 49,331 males who died from causes other than those related to smoking were used as control group 1 and control group 2, respectively. Consistency in the results when comparing cases with each of the control groups was assessed. Consistency in the results was observed in the analyses using different control groups although cancer deaths varied with region and age. Equivalence could be ascertained using a 15% criterion in most cancer deaths which had high death rates in urban areas, but they were uncertain for most cancers in rural areas irrespective of whether the hypothesis testing showed significant differences or not. Sex-matched living spouse control design as an alternative control selection for a case-control study is valid and feasible, and the basic principles of the equivalence study are also supported by epidemiological survey data.

Case-control study of genetic and environmental influences on premature death of adult adoptees.

Science.gov (United States)

Petersen, Liselotte; Nielsen, Gert G; Andersen, Per Kragh; Sørensen, Thorkild I A

2002-08-01

Genetic and environmental influence on risk of premature death in adulthood was investigated by estimating the associations in total and cause-specific mortality of adult Danish adoptees and their biological and adoptive parents. Among all 14,427 nonfamilial adoptions formally granted in Denmark during the period 1923 through 1947, we identified 976 case families in which the adoptee died before a fixed date. As control families, we selected 976 families where the adoptees were alive on that date, and matched to the case adoptees with regard to gender and year and month of birth. The data were viewed as a cohort of case parents and a cohort of control parents, and lifetime distributions in the two cohorts were compared using a Cox regression, stratified with regard to the matching variables: gender and year of birth. In the main analyses, the sample was restricted with regard to birth year of the adoptees, and age of transfer to the adoptive parents, and age at death was restricted to the same range for parents and offspring (25-64 years) in order to consider a symmetric lifetime distribution. This reduces the sample to 459 case families and 738 control families. Various truncations, restrictions, and stratifications were used in order to examine the robustness of the results. The results showed a higher mortality among biological parents who had children dying in the age range 25 through 64 years, and this was significant for death from natural causes, infectious causes, vascular causes, and from all causes combined. There were no significant effects for the adoptive parents. This study supports that there are moderate genetic influences on the risk of dying prematurely in adulthood, and only a small, if any, effect of the family environment. Copyright 2002 Wiley-Liss, Inc.

Interactions of infectious symptoms and modifiable risk factors in sudden infant death syndrome. The Nordic Epidemiological SIDS study

DEFF Research Database (Denmark)

Helweg-Larsen, K; Banner, Jytte; Oyen, N

1999-01-01

The aim of the study was to investigate the effect of infection on sudden infant death syndrome (SIDS) and to analyse whether modifiable risk factors of SIDS, prone sleeping, covered head and smoking act as effect modifiers. In a consecutive multicentre case-control study of SIDS in Denmark, Norway...... regression. Significantly more cases than controls presenting symptoms of infectious diseases during the last week and/or last day were treated with antibiotics and had been seen by a physician. The finding is consistent with the hypothesis of an infectious mechanism in SIDS induced by local microorganism......, prone sleeping, head covered or parental smoking, was far greater than the sum of each individual factor. These risk factors thus modify the dangerousness of infection in infancy....

Anticholinergic Toxic Syndrome Caused by Atropa Belladonna Fruit (Deadly Nightshade): A Case Report

Science.gov (United States)

Demirhan, Abdullah; Tekelioğlu, Ümit Yaşar; Yıldız, İsa; Korkmaz, Tanzer; Bilgi, Murat; Akkaya, Akcan; Koçoğlu, Hasan

2013-01-01

Atropa Belladonna poisoning may lead to anticholinergic syndrome. Ingestion of high amounts of the plant may cause lethargy, coma, and even a serious clinical picture leading to death. In this case report, we aimed to present a case with anticholinergic syndrome that developed after ingestion of the fruit called “Deadly Nightshade” in our country. PMID:27366377

The Role of Respiratory Infection in Sudden Infant Death Syndrome (SIDS

Directory of Open Access Journals (Sweden)

Mage David T.

2016-06-01

Full Text Available Introduction: The Sudden Infant Death Syndrome (SIDS is not likely to be explained by a currently measureable presence in all cases and absence in controls, as otherwise it would have been solved already. Indeed, any proposed physiological model for SIDS causation must explain the constant mathematical and statistical properties of SIDS age and gender. We have shown previously that SIDS are characterized by a common 4-parameter lognormal age distribution sparing neonatal infants, by a nominal 50% male excess, and by a higher rate in winter than summer. We test now whether SIDS is closely related to a fulminating prodromal Acute Respiratory Infection (ARI by a common increasing rate with the infants increasing Live Birth Order (LBO, all remaining the same, independent of the change in preferred sleeping positions of the infants, prone or supine.

Guillain-Barré syndrome and adjuvanted pandemic influenza A (H1N1) 2009 vaccine: multinational case-control study in Europe

OpenAIRE

Dieleman, Jeanne; Romio, Silvana; Johansen, Kari; Weibel, Daniel; Bonhoeffer, Jan; Sturkenboom, Miriam

2011-01-01

textabstractObjective: To assess the association between pandemic influenza A (H1N1) 2009 vaccine and Guillain-Barré syndrome. Design: Case-control study. Setting: Five European countries. Participants: 104 patients with Guillain-Barré syndrome and its variant Miller-Fisher syndrome matched to one or more controls. Case status was classified according to the Brighton Collaboration definition. Controls were matched to cases on age, sex, index date, and country. Main outcome measures: Relative ...

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

Science.gov (United States)

Butler, Merlin G; Manzardo, Ann M; Heinemann, Janalee; Loker, Carolyn; Loker, James

2017-06-01

Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.

Síndrome de muerte súbita del lactante Sudden infant death syndrome

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María Marlen Avalos González

2009-09-01

Full Text Available En nuestra área de salud se presentó un caso de muerte súbita del lactante, en un paciente de 7 meses de edad, masculino, con antecedentes de salud anterior y antecedentes patológicos familiares negativos. Fue inexplicable su muerte, aun después de realizada una necropsia completa, la investigación de la escena de la muerte y la evaluación de la historia clínica del niño y su familia. El síndrome de muerte súbita del lactante es de causa desconocida, lo más probable es que sea de etiología multifactorial, se debe de estar alerta para evitar los factores que se asocian con mayor frecuencia a estos niños y así prevenir la aparición de este síndrome.In our health area, there was a case of sudden infant death, in a patient aged 7 months, male, with previous health backgrounds and negative family pathologic backgrounds. Its death was inexplicable, even after a complete necropsy, the research of death scene, and the medical record assessment of child and its family. Sudden infant death syndrome is an unknown cause, probably of multifactor origin. We must to be on the alert to avoid the more frequent factors associating with these children, and thus to prevent appearance of this syndrome.

NEONATAL ABSTINENCE SYNDROME - CASE REPORT

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Aleksandra Matic

2008-01-01

Full Text Available Neonatal abstinence syndrome (NAS refers to the constellation of signs and symptoms exhibited by a newborn of drug-abusing mother. NAS is multisystemic disorder, most frequently involving central nervous and gastrointestinal systems with irritability, high-pitched cry, hyperactive reflexes, increased muscle tone, tremors, generalized convulsions, feeding and sleeping disorders, tachycardia, tachypnea, apnea, termolability and sweating, frequent hiccups, yawning and sneezing, vomiting, diarrhea and dehydration.Intrauterine narcotic disposition can give some other adverse effects beside NAS: fetal distress, premature birth, intrauterine growth retardation, microcephaly, increased incidence of congenital anomalies (cardiac and genitourinary anomalies, cleft palate, biliar atresia. Significantly increased risks of sudden infant’s death syndrome (SIDS, abnormalities in neurocognitive and behavioral development and deficiency in motor functions have also been noticed after the long-term surveys of these children.This paper is a case report of a newborn with developed clinical signs of NAS, but it also discusses diagnostics and management of such cases

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

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Ramond, Francis; Duband, Sébastien; Croisille, Pierre; Cavé, Hélène; Teyssier, Georges; Adouard, Véronique; Touraine, Renaud

2017-06-01

Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Sports and Marfan Syndrome: Awareness and Early Diagnosis Can Prevent Sudden Death.

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Salim, Mubadda A.; Alpert, Bruce S.

2001-01-01

Physicians who work with athletes play an important role in preventing sudden death related to physical activity in people who have Marfan syndrome. Flagging those who have the physical stigmata and listening for certain cardiac auscultation sounds are early diagnostic keys that can help prevent deaths. People with Marfan syndrome should be…

Firefighters and on-duty deaths from coronary heart disease: a case control study

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Soteriades Elpidoforos S

2003-11-01

Full Text Available Abstract Background Coronary heart disease (CHD is responsible for 45% of on-duty deaths among United States firefighters. We sought to identify occupational and personal risk factors associated with on-duty CHD death. Methods We performed a case-control study, selecting 52 male firefighters whose CHD deaths were investigated by the National Institute for Occupational Safety and Health. We selected two control populations: 51 male firefighters who died of on-duty trauma; and 310 male firefighters examined in 1996/1997, whose vital status and continued professional activity were re-documented in 1998. Results The circadian pattern of CHD deaths was associated with emergency response calls: 77% of CHD deaths and 61% of emergency dispatches occurred between noon and midnight. Compared to non-emergency duties, fire suppression (OR = 64.1, 95% CI 7.4–556; training (OR = 7.6, 95% CI 1.8–31.3 and alarm response (OR = 5.6, 95% CI 1.1–28.8 carried significantly higher relative risks of CHD death. Compared to the active firefighters, the CHD victims had a significantly higher prevalence of cardiovascular risk factors in multivariate regression models: age ≥ 45 years (OR 6.5, 95% CI 2.6–15.9, current smoking (OR 7.0, 95% CI 2.8–17.4, hypertension (OR 4.7, 95% CI 2.0–11.1, and a prior diagnosis of arterial-occlusive disease (OR 15.6, 95% CI 3.5–68.6. Conclusions Our findings strongly support that most on-duty CHD fatalities are work-precipitated and occur in firefighters with underlying CHD. Improved fitness promotion, medical screening and medical management could prevent many of these premature deaths.

Tropical diabetic hand syndrome: a case report.

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Yeika, Eugene Vernyuy; Tchoumi Tantchou, Jacques Cabral; Foryoung, Joyce Bei; Tolefac, Paul Nkemtendong; Efie, Derrick Tembi; Choukem, Siméon Pierre

2017-02-13

Tropical diabetic hand syndrome describes a complex hand sepsis affecting patients with diabetes across the tropics and often results from a trivial hand trauma. The clinical presentation of this syndrome is variable and ranges from localised swelling and cellulitis, with or without ulceration of the hand to progressive fulminant hand sepsis, and gangrene affecting the entire limb which may be fatal. Tropical diabetic hand syndrome could lead to permanent disability and death as a result of delay in presentation, late diagnosis and late medical and surgical intervention. This indexed case acts as an eye opener for physicians to the existence of this hand sepsis. We report the case of a 57 year-old black African female diabetic who was referred to our centre for the management of a suppurating ulcer and swelling of the left hand of two weeks duration. On examination and work-up, the patient was found to have Lawal Group III left diabetic hand syndrome and was managed with parenteral antibiotics, radical debridement and the hand was eventually amputated. She died 7 days following amputation from overwhelming sepsis. Though tropical diabetic hand syndrome is a relatively rare complication of diabetes, it can be fatal as in this case report. Early diagnosis and proper management would yield better outcome. Initial management should include aggressive intravenous broad-spectrum antibiotics with anaerobic coverage. Classification of tropical diabetic hand syndrome will assist physicians and surgeons in decision making, proper management and easy communication.

Predictors and outcomes of superior mesenteric artery syndrome in patients with constipation: a prospective, nested case-control study.

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Xu, Lin; Yu, Wen-Kui; Lin, Zhi-Liang; Jiang, Jun; Feng, Xiao-Bo; Li, Ning

2014-10-01

Superior mesenteric artery (SMA) syndrome may occur in patients with constipation, whereas the association between these two distinct diseases has not been confirmed yet. We investigated the incidence, risk factors and treatment strategy associated with SMA syndrome in constipated patients. We conducted a prospective nested case-control study from a 9-year hospitalization cohort (n=973). Cases were matched to controls 1:4 on factors of age and gender. Cases developed SMA syndrome in long term follow-up (n=26) and controls did not (n=104). Independent risk factors were identified by using univariate analysis and conditional logistic regression analysis. Enteral nutritional support was applied in all cases and its curative effect was evaluated by retrospective analysis. The incidence of SMA syndrome was 2.67%. The risk factors under scrutiny were body mass index (BMI)≤18 (odds ratio (OR) 2.89, 95% CI 1.14 to 9.31) and abnormal colon transit time (OR 3.57, 95% CI 1.36 to 9.35). Twenty-two patients recovered after treatment of nutritional support, and the success rate of conservative treatment was 84.6%. BMI≤18 and prolonged colon transit time both were risk factors associated with SMA syndrome in constipated patients. Enteral nutritional support should be adopted as the first-line treatment for this condition.

A Case of Bardet-Biedl Syndrome

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katayon Etemadi

2007-09-01

Full Text Available Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnormalities and hypogonadism. Renal failure is the major cause of death in homozygote patients, with chronic glomerolopathy that cause chronic renal disease. Secondary features are: speech disorder delay, developmental delay, polyuria, diabetes mellitus and hypertension. The diagnosis of Bardet- Biedl syndrome is established by clinical findings. Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. Case presentation: In this article we report a four and half year old boy that have Bardet Biedl syndrome as a result of a consanguine marriage (third degree. Conclusion: A monogenic syndrome such as Bardet Biedl has a lot of symptoms. These symptoms are out put of a mutation in locus of a recessive allel. Therefore people like to marry consanguinly have to do genetic counseling before marriage. Because analysis of family history will reduced the risk of such syndromes.

Febrile convulsions and sudden infant death syndrome

DEFF Research Database (Denmark)

Vestergaard, Mogens; Basso, Olga; Henriksen, Tine Brink

2002-01-01

It has been suggested that sudden infant death syndrome (SIDS) and febrile convulsions are related aetiologically. We compared the risk of SIDS in 9877 siblings of children who had had febrile convulsions with that of 20.177 siblings of children who had never had febrile convulsions. We found...

Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress

DEFF Research Database (Denmark)

Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob

2013-01-01

The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress...... responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High...... interpersonal variance found in the SIDS group indicated that they represented a more heterogeneous group than controls. The SIDS group responded to thermal stress with a higher expression of the HSPA1B and HSPD1 genes compared to the control group, whereas no significant difference was observed...

Bed-sharing in the absence of hazardous circumstances: is there a risk of sudden infant death syndrome? An analysis from two case-control studies conducted in the UK.

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Peter S Blair

Full Text Available The risk of sudden infant death syndrome (SIDS among infants who co-sleep in the absence of hazardous circumstances is unclear and needs to be quantified.Combined individual-analysis of two population-based case-control studies of SIDS infants and controls comparable for age and time of last sleep.Parents of 400 SIDS infants and 1386 controls provided information from five English health regions between 1993-6 (population: 17.7 million and one of these regions between 2003-6 (population:4.9 million.Over a third of SIDS infants (36% were found co-sleeping with an adult at the time of death compared to 15% of control infants after the reference sleep (multivariate OR = 3.9 [95% CI: 2.7-5.6]. The multivariable risk associated with co-sleeping on a sofa (OR = 18.3 [95% CI: 7.1-47.4] or next to a parent who drank more than two units of alcohol (OR = 18.3 [95% CI: 7.7-43.5] was very high and significant for infants of all ages. The risk associated with co-sleeping next to someone who smoked was significant for infants under 3 months old (OR = 8.9 [95% CI: 5.3-15.1] but not for older infants (OR = 1.4 [95% CI: 0.7-2.8]. The multivariable risk associated with bed-sharing in the absence of these hazards was not significant overall (OR = 1.1 [95% CI: 0.6-2.0], for infants less than 3 months old (OR = 1.6 [95% CI: 0.96-2.7], and was in the direction of protection for older infants (OR = 0.1 [95% CI: 0.01-0.5]. Dummy use was associated with a lower risk of SIDS only among co-sleepers and prone sleeping was a higher risk only among infants sleeping alone.These findings support a public health strategy that underlines specific hazardous co-sleeping environments parents should avoid. Sofa-sharing is not a safe alternative to bed-sharing and bed-sharing should be avoided if parents consume alcohol, smoke or take drugs or if the infant is pre-term.

Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

Science.gov (United States)

Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

2009-11-01

To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

Sudden death syndrome of soybean in Argentina

Science.gov (United States)

Sudden death syndrome (SDS) is one of the most common and widely spread root disease affecting soybean [Glycine max (L.) Merr.] in Argentina where it is an economically important crop. This disease was first discovered in this country in 1992 in the Pampas Region, and the following year in Northwest...

DHAT SYNDROME AND ITS ASSOCIATION WITH SEXUAL BEHAVIOR AND PYSCHIATRIC COMORBIDITIES IN MALES: A CASE CONTROL STUDY

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Sahu RN, Sharma VK, Ashutosh Kumar, Chintan Bavishi, Balaji More

2015-01-01

Full Text Available Background: Dhat syndrome is often taken as culture bound syndrome (CBS of Indian subcontinent. There are many misconceptions which form base of symptoms and co morbidities. Aim: Dhat syndrome is reported on basis of self diagnosis. The study aims to study associated symptoms, sexual behavior and co morbidities in Indian population. Material and Methods: This cross-sectional and case-control study was carried with help of trained local interviewers at Department of Psychiatry and Medicine, Gandhi Medical College (GMC, Associated Hamidia Hospital, Bhopal, India. Cases were compared to healthy matched controls. The study was conducted using clinical interview, physical examination and other necessary investigations like urine analysis and microscopy. Results: Of the 50 cases and control, each, age group was 21 to 25 years (48% and education upto12th class (60%. 20% cases reported history of Masturbation. Extramarital or premarital sexual contact was found to have little significance on the syndrome. 76% of the patients met DSM-IV Diagnostic Criteria for Anxiety and 56% patients met for Depression. 23 patients (46.3% were having a co-morbid somatic complains like body ache, weakness and fatigue. Erectile dysfunction by 34% & premature ejaculation by 8% was reported. In Urine routine analysis and microscope no oxalates or phosphates were noted. Conclusions: Dhat syndrome is more common among low educated young population. Laboratory evidence of any pathological cause was not found. Contrary to popular belief, it had no direct correlation with masturbation and pre and extra marital sexual contact.

Kinky hair syndrome - a case report -

International Nuclear Information System (INIS)

Yeon, Kyung Mo; Kim, In One; Chi, Je G.; Moon, Hyung Ro

1986-01-01

Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.

Sudden infant death syndrome (SIDS, substance misuse, and smoking in pregnancy

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Ali K

2012-10-01

Full Text Available Kamal Ali, Na’eem Ahmed, Anne GreenoughDivision of Asthma, Allergy, and Lung Biology, Medical Research Council and Asthma UK Center in Allergic Mechanisms of Asthma, King’s College Hospital, London, United KingdomAbstract: In the developed world, sudden infant death syndrome (SIDS remains the leading cause of death in the post neonatal period. This review highlights the association between maternal substance misuse and SIDS, and discusses whether the increased risk is explained by abnormalities of respiratory control. Substance misuse during pregnancy is common, and although the incidence of smoking has declined in recent years among pregnant women, an increasing proportion of mothers of infants who have died of SIDS smoke. The risk of SIDS is increased in women who take opiates, but not cocaine or marijuana, although infants exposed to either of these drugs suffer morbidity, including reduced birth weight. Nicotine exposure increases the risk of SIDS, particularly if both parents smoke, and there is a dose-dependent effect. A variety of respiratory abnormalities have been described in the infants of substance abuse mothers, which may increase their risk of SIDS. These abnormalities include a reduced ability to recover from prolonged apnea and a blunted response to hypoxia and hypercarbia. These results are consistent with postmortem brainstem abnormalities reported among SIDS victims.Keywords: sudden infant death syndrome, nicotine, opiates

Development of a Clinical Tool to Predict Home Death of a Discharged Cancer Patient in Japan: a Case-Control Study.

Science.gov (United States)

Fukui, Sakiko; Morita, Tatsuya; Yoshiuchi, Kazuhiro

2017-08-01

The aim of this study was to investigate the predictive value of a clinical tool to predict whether discharged cancer patients die at home, comparing groups of case who died at home and control who died in hospitals or other facilities. We conducted a nationwide case-control study to identify the determinants of home death for a discharged cancer patient. We randomly selected nurses in charge of 2000 home-visit nursing agencies from all 5813 agencies in Japan by referring to the nationwide databases in January 2013. The nurses were asked to report variables of their patients' place of death, patients' and caregivers' clinical statuses, and their preferences for home death. We used logistic regression analysis and developed a clinical tool to accurately predict it and investigated their predictive values. We identified 466 case and 478 control patients. Five predictive variables of home death were obtained: patients' and caregivers' preferences for home death [OR (95% CI) 2.66 (1.99-3.55)], availability of visiting physicians [2.13 (1.67-2.70)], 24-h contact between physicians and nurses [1.68 (1.30-2.18)], caregivers' experiences of deathwatch at home [1.41 (1.13-1.75)], and patients' insights as to their own prognosis [1.23 (1.02-1.50)]. We calculated the scores predicting home death for each variable (range 6-28). When using a cutoff point of 16, home death was predicted with a sensitivity of 0.72 and a specificity of 0.81 with the Harrell's c-statistic of 0.84. This simple clinical tool for healthcare professionals can help predict whether a discharged patient is likely to die at home.

Preejaculatory illness syndrome: Two cases of a rare psychosomatic disorder

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Adel Mohsen

2016-01-01

Full Text Available Human ejaculation happens in the orgasmic phase of the human sexual response cycle. Among psychosomatic ejaculatory disorders that may happen before ejaculation, we present two cases of preejaculatory illness syndrome. The two cases shared common symptoms of sympathetic over activity, the sensation of impending death, and muscle atonia with subsequent failure to ejaculate. Depression, anxiety disorders, and family histories of psychiatric problems were noticed as risk factors. Medical conditions that may lead to panic attack type symptoms were eliminated before the final diagnosis. After the failure of empirical medications, symptoms became controlled with fluoxetine. Patients reported a recurrence of the symptoms on trying to stop the prescribed medication. On the last follow-up, they still take fluoxetine on a regular base with satisfactory sexual life.

The Brugada syndrome. Outcome of one case

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Maia Ivan G.

2000-01-01

Full Text Available The Brugada syndrome is a rare condition, and due to its mutating manner of presentation it may be difficult to diagnose. We report one case and discuss the diagnostic aspects and the clinical outcome of one patient with characteristic findings of this syndrome. These findings are especially defined by J-ST elevation in the right leads of serial electrocardiographic records, wide oscillations of J points and ST segments during 24-hour Holter monitoring, and nocturnal sudden death. We stress the importance of the Holter monitor findings for diagnostic complementation. Through this method it is possible to establish a correlation between vigil activities and sleep and the variability of the degree of impairment in ventricular repolarization.

The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

DEFF Research Database (Denmark)

Banner, Jytte; Gregersen, N; Kølvraa, S

1993-01-01

A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death...... syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency...... in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical...

Hyper Ig E syndrome (Job syndrome, HIES) – radiological images of pulmonary complications on the basis of three cases

International Nuclear Information System (INIS)

Jończyk-Potoczna, Katarzyna; Szczawińska-Popłonyk, Aleksandra; Warzywoda, Małgorzata; Bręborowicz, Anna; Pawlak, Bogdan

2012-01-01

Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations – fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome

Febrile seizures prior to sudden cardiac death

DEFF Research Database (Denmark)

Stampe, Niels Kjær; Glinge, Charlotte; Jabbari, Reza

2018-01-01

Aims: Febrile seizure (FS) is a common disorder affecting 2-5% of children up to 5 years of age. The aim of this study was to determine whether FS in early childhood are over-represented in young adults dying from sudden cardiac death (SCD). Methods and results: We included all deaths (n = 4595...... with FS was sudden arrhythmic death syndrome (5/8; 62.5%). Conclusion: In conclusion, this study demonstrates a significantly two-fold increase in the frequency of FS prior to death in young SCD cases compared with the two control groups, suggesting that FS could potentially contribute in a risk......) nationwide and through review of all death certificates, we identified 245 SCD in Danes aged 1-30 years in 2000-09. Through the usage of nationwide registries, we identified all persons admitted with first FS among SCD cases (14/245; 5.7%) and in the corresponding living Danish population (71 027/2 369 785...

Antipsychotic Medications and Risk of Acute Coronary Syndrome in Schizophrenia: A Nested Case-Control Study.

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Hsing-Cheng Liu

Full Text Available This study assessed the risk of developing acute coronary syndrome requiring hospitalization in association with the use of certain antipsychotic medications in schizophrenia patients.A nationwide cohort of 31,177 inpatients with schizophrenia between the ages of 18 and 65 years whose records were enrolled in the National Health Insurance Research Database in Taiwan from 2000 to 2008 and were studied after encrypting the identifications. Cases (n = 147 were patients with subsequent acute coronary syndrome requiring hospitalization after their first psychiatric admission. Based on a nested case-control design, each case was matched with 20 controls for age, sex and the year of first psychiatric admission using risk-set sampling. The effects of antipsychotic agents on the development of acute coronary syndrome were assessed using multiple conditional logistic regression and sensitivity analyses to confirm any association.We found that current use of aripiprazole (adjusted risk ratio [RR] = 3.68, 95% CI: 1.27-10.64, p<0.05 and chlorpromazine (adjusted RR = 2.96, 95% CI: 1.40-6.24, p<0.001 were associated with a dose-dependent increase in the risk of developing acute coronary syndrome. Although haloperidol was associated with an increased risk (adjusted RR = 2.03, 95% CI: 1.20-3.44, p<0.01, there was no clear dose-dependent relationship. These three antipsychotic agents were also associated with an increased risk in the first 30 days of use, and the risk decreased as the duration of therapy increased. Sensitivity analyses using propensity score-adjusted modeling showed that the results were similar to those of multiple regression analysis.Patients with schizophrenia who received aripiprazole, chlorpromazine, or haloperidol could have a potentially elevated risk of developing acute coronary syndrome, particularly at the start of therapy.

Metabolic Syndrome Increases the Risk of Sudden Sensorineural Hearing Loss in Taiwan: A Case-Control Study.

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Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wu, Ming-Tsang; Ho, Kuen-Yao

2015-07-01

Sudden sensorineural hearing loss has been reported to be associated with diabetes mellitus, hypertension, and hyperlipidemia in previous studies. The aim of this study was to examine whether metabolic syndrome increases the risk of sudden sensorineural hearing loss in Taiwan. A case-control study. Tertiary university hospital. We retrospectively investigated 181 cases of sudden sensorineural hearing loss and 181 controls from the Department of Otorhinolaryngology, Kaohsiung Medical University Hospital, in southern Taiwan from 2010 to 2012, comparing their clinical variables. We analyzed the relationship between metabolic syndrome and sudden sensorineural hearing loss. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III with Asian modifications. The demographic and clinical characteristics, audiometry results, and outcome were reviewed. Subjects with metabolic syndrome had a 3.54-fold increased risk (95% confidence interval [CI] = 2.00-6.43, P diabetes mellitus, hypertension, and hyperlipidemia. With increases in the number of metabolic syndrome components, the risk of sudden sensorineural hearing loss increased (P for trend Vertigo was associated with a poor outcome (P = .02; 95% CI = 1.13~5.13, adjusted odds ratio = 2.39). The hearing loss pattern may influence the outcome of sudden sensorineural hearing loss (P Vertigo and total hearing loss were indicators of a poor outcome in sudden sensorineural hearing loss. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

A Case-Control Study to Estimate the Impact of the Icelandic Population-Based Mammography Screening Program on Breast Cancer Death

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Gabe, R.; Tryggvadottir, L.; Sigfusson, B.F.; Olafsdottir, G.H.; Sigurarsson , K. [Icelandic Cancer Society (Krabbameinsfelag Islands), Reykjavik (Iceland); Duffy, S.W. [Cancer Research UK, Centre for Epidemiology, Mathematics and Stati stics, Wolfson Inst. of Preventive Medicine, London (United Kingdom)

2007-11-15

Background: The Icelandic breast cancer screening program, initiated November 1987 in Reykjavik and covering the whole country from December 1989, comprises biennial invitation to mammography for women aged 40-69 years old. Purpose: To estimate the impact of mammography service screening in Iceland on deaths from breast cancer. Material and Methods: Cases were deaths from breast cancer from 1990 onwards in women aged 40 and over at diagnosis, during the period November 1987 to December 31, 2002. Age- and screening-area-matched, population-based controls were women who had also been invited to screening but were alive at the time their case died. Results: Using conditional logistic regression on the data from 226 cases and 902 controls, the odds ratio for the risk of death from breast cancer in those attending at least one screen compared to those never screened was 0.59 (95% CI 0.41-0.84). After adjustment for healthy-volunteer bias and screening-opportunity bias, the odds ratio was 0.65 (95% CI 0.39-1.09). Conclusion: These results indicate a 35-40% reduction in breast cancer deaths by attending the Icelandic breast cancer screening program. These results are consistent with the overall evidence from other observational evaluations of mammography-based programs.

A Case-Control Study to Estimate the Impact of the Icelandic Population-Based Mammography Screening Program on Breast Cancer Death

International Nuclear Information System (INIS)

Gabe, R.; Tryggvadottir, L.; Sigfusson, B.F.; Olafsdottir, G.H.; Sigurarsson, K.; Duffy, S.W.

2007-01-01

Background: The Icelandic breast cancer screening program, initiated November 1987 in Reykjavik and covering the whole country from December 1989, comprises biennial invitation to mammography for women aged 40-69 years old. Purpose: To estimate the impact of mammography service screening in Iceland on deaths from breast cancer. Material and Methods: Cases were deaths from breast cancer from 1990 onwards in women aged 40 and over at diagnosis, during the period November 1987 to December 31, 2002. Age- and screening-area-matched, population-based controls were women who had also been invited to screening but were alive at the time their case died. Results: Using conditional logistic regression on the data from 226 cases and 902 controls, the odds ratio for the risk of death from breast cancer in those attending at least one screen compared to those never screened was 0.59 (95% CI 0.41-0.84). After adjustment for healthy-volunteer bias and screening-opportunity bias, the odds ratio was 0.65 (95% CI 0.39-1.09). Conclusion: These results indicate a 35-40% reduction in breast cancer deaths by attending the Icelandic breast cancer screening program. These results are consistent with the overall evidence from other observational evaluations of mammography-based programs

Cardiac muscarinic receptor overexpression in sudden infant death syndrome.

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Angelo Livolsi

Full Text Available BACKGROUND: Sudden infant death syndrome (SIDS remains the leading cause of death among infants less than 1 year of age. Disturbed expression of some neurotransmitters and their receptors has been shown in the central nervous system of SIDS victims but no biological abnormality of the peripheral vago-cardiac system has been demonstrated to date. The present study aimed to seek vago-cardiac abnormalities in SIDS victims. The cardiac level of expression of muscarinic receptors, as well as acetylcholinesterase enzyme activity were investigated. METHODOLOGY/PRINCIPAL FINDINGS: Left ventricular samples and blood samples were obtained from autopsies of SIDS and children deceased from non cardiac causes. Binding experiments performed with [(3H]NMS, a selective muscarinic ligand, in cardiac membrane preparations showed that the density of cardiac muscarinic receptors was increased as shown by a more than doubled B(max value in SIDS (n = 9 SIDS versus 8 controls. On average, the erythrocyte acetylcholinesterase enzyme activity was also significantly increased (n = 9 SIDS versus 11 controls. CONCLUSIONS: In the present study, it has been shown for the first time that cardiac muscarinic receptor overexpression is associated with SIDS. The increase of acetylcholinesterase enzyme activity appears as a possible regulatory mechanism.

Fatal atypical reversible posterior leukoencephalopathy syndrome: a case report

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Golombeck Stefanie Kristin

2013-01-01

Full Text Available Abstract Introduction Reversible posterior leukoencephalopathy syndrome – a reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures – is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both clinical signs and magnetic resonance imaging lesions is regarded as a defining feature of reversible posterior leukoencephalopathy syndrome. Reversible posterior leukoencephalopathy syndrome is almost exclusively seen in the setting of a predisposing clinical condition, such as pre-eclampsia, systemic infections, sepsis and shock, certain autoimmune diseases, various malignancies and cytotoxic chemotherapy, transplantation and concomitant immunosuppression (especially with calcineurin inhibitors as well as episodes of abrupt hypertension. We describe for the first time clinical, radiological and histological findings in a case of reversible posterior leukoencephalopathy syndrome with an irreversible and fatal outcome occurring in the absence of any of the known predisposing clinical conditions except for a hypertensive episode. Case presentation A 58-year-old Caucasian woman presented with a two-week history of subacute and progressive occipital headache, blurred vision and imbalance of gait and with no evidence for raised arterial blood pressure during the two weeks previous to admission. Her past medical history was unremarkable except for controlled arterial hypertension. Cerebral magnetic resonance imaging demonstrated cortical and subcortical lesions with combined vasogenic and cytotoxic edema atypical for both venous congestion and arterial infarction. Routine laboratory and cerebrospinal fluid parameters were normal. The diagnosis of reversible posterior leukoencephalopathy syndrome was established. Within hours after

Colorectal cancer and its association with the metabolic syndrome: a Malaysian multi-centric case-control study.

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Ulaganathan, V; Kandiah, M; Zalilah, M S; Faizal, J A; Fijeraid, H; Normayah, K; Gooi, B H; Othman, R

2012-01-01

Colorectal cancer (CRC) and the metabolic syndrome (MetS) are both on the rise in Malaysia. A multi-centric case-control study was conducted from December 2009 to January 2011 to determine any relationship between the two. Patients with confirmed CRC based on colonoscopy findings and cancer free controls from five local hospitals were assessed for MetS according to the International Diabetes Federation (IDF) definition. Each index case was matched for age, gender and ethnicity with two controls (140: 280). MetS among cases was highly prevalent (70.7%), especially among women (68.7%). MetS as an entity increased CRC risk by almost three fold independently (OR=2.61, 95%CI=1.53-4.47). In men MetS increased the risk of CRC by two fold (OR=2.01, 95%CI, 1.43-4.56), demonstrating an increasing trend in risk with the number of Mets components observed. This study provides evidence for a positive association between the metabolic syndrome and colorectal cancer. A prospective study on the Malaysian population is a high priority to confirm these findings.

Sudden unexpected death in infancy in Denmark

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Winkel, Bo Gregers; Holst, Anders Gaarsdal; Theilade, Juliane

2011-01-01

Abstract Background. Incidence of sudden unexpected death in infancy (SUDI) and sudden infant death syndrome (SIDS) differs among studies and non-autopsied cases are difficult to assess. Objectives. To investigate causes of sudden death in infancy in a nationwide setting. Validate the use...... of the ICD-10 code for SIDS (R95) in the Danish Cause of Death registry. Design. A retrospective analysis of all infant deaths (death certificates and autopsy reports were read. Results. We identified 192 SUDI cases (10% of total deaths, 0.42 per 1000 births......) with autopsy performed in 87% of cases. In total, 49% of autopsied SUDI cases were defined as SIDS (5% of all deaths, 0.22 per 1000 births); Cardiac cause of death was denoted in 24% of cases. The Danish Cause of Death Registry misclassified 30% of SIDS cases. Conclusions. A large proportion of infant deaths...

No prognostic significance of chronic infection with Chlamydia pneumoniae in acute coronary syndromes: insights from the Global Utilization of Strategies to Open Occluded Arteries IV Acute Coronary Syndromes trial

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Westerhout, Cynthia M; Gnarpe, Judy; Chang, Wei-Ching

2007-01-01

case-control substudy of the Global Utilization of Strategies to Open Occluded Arteries IV Acute Coronary Syndromes trial, 295 cases (30-day death/myocardial infarction [MI]) were matched by age, sex, baseline creatine kinase-myocardial kinase, and smoking status with 295 control subjects. To test...

[Occupational carpal tunnel syndrome: 27 cases].

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Slimane, Neila Ben; Elleuch, Mohamed; Gharbi, Ezzedine; Babay, Habib; Hamdoun, Moncef

2010-09-01

Carpal tunnel syndrome is the most frequent of tunnel syndromes in the field of the professional sphere. It is related to repetitive movements of flexion-extension of the wrist and fingers or to a support on the heel of the hands. To determine the posts in a risk and to specify the modalities of guaranteed reimbursement of professional carpal tunnel syndrome. A retrospective and descriptive study of 27 medical files of employees indemnified for professional carpal tunnel syndrome registered in the medical control services of the social security office in charge of medical insurance of Tunis and Sousse during a period of 10 years (1995-2004). There were 24 women and 3 men with the average age of 40 years all occupying posts in a risk. Their average time of service is 15 years. Tow-thirds of them work in the clothing and textile industry. The attack is bilateral in 13 cases. Nightly acroparaesthesia rules the clinical rate (44.44% of cases). Motor disorders are noted in the quarter of cases. The electromyogram had confirmed diagnosis in all of cases. The previous state study put in evidence the antecedent of carpal tunnel syndrome in 5 cases and diabetes in one case. Twenty-one patients had profit of permanent partial incapacity with a rate varying from 3 to 25%. Five had got a transfer of working place and one stayed in the same post with a half-time work. The professional origin of carpal tunnel syndrome must be called up in front of an activity in a risk. The reparation is done according to picture 82 of occupational diseases.

Guillain-Barré syndrome and adjuvanted pandemic influenza A (H1N1) 2009 vaccine: Multinational case-control study in Europe

NARCIS (Netherlands)

J.P. Dieleman (Jeanne); S. Romio (Silvana); K. Johansen (Kari); D.M. Weibel (Daniel); J. Bonhoeffer (Jan); M.C.J.M. Sturkenboom (Miriam)

2011-01-01

textabstractObjective: To assess the association between pandemic influenza A (H1N1) 2009 vaccine and Guillain-Barré syndrome. Design: Case-control study. Setting: Five European countries. Participants: 104 patients with Guillain-Barré syndrome and its variant Miller-Fisher syndrome matched to one

Symptomatic Cushing's syndrome and hyperandrogenemia in a steroid cell ovarian neoplasm: a case report.

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Sedhom, Ramy; Hu, Sophia; Ohri, Anupam; Infantino, Dorian; Lubitz, Sara

2016-10-12

Malignant steroid cell tumors of the ovary are rare and frequently associated with hormonal abnormalities. There are no guidelines on how to treat rapidly progressive Cushing's syndrome, a medical emergency. A 67-year-old white woman presented to our hospital with rapidly developing signs and symptoms of Cushing's syndrome secondary to a steroid-secreting tumor. Her physical and biochemical manifestations of Cushing's syndrome progressed, and she was not amenable to undergoing conventional chemotherapy secondary to the debilitating effects of high cortisol. Her rapidly progressive Cushing's syndrome ultimately led to her death, despite aggressive medical management with spironolactone, ketoconazole, mitotane, and mifepristone. We report an unusual and rare case of Cushing's syndrome secondary to a malignant steroid cell tumor of the ovary. The case is highlighted to discuss the complications of rapidly progressive Cushing's syndrome, an underreported and often unrecognized endocrine emergency, and the best available evidence for treatment.

Characteristics and Factors Associated with Death among Patients Hospitalized for Severe Fever with Thrombocytopenia Syndrome, South Korea, 2013.

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Shin, Jaeseung; Kwon, Donghyok; Youn, Seung-Ki; Park, Ji-Hyuk

2015-10-01

In South Korea, nationwide surveillance for severe fever with thrombocytopenia syndrome (SFTS) began during 2013. Among 301 surveillance cases, 35 hospitalized case-patients in 25 areas were confirmed by using virologic testing, and 16 (46%) case-patients subsequently died. The SFTS cases occurred during May-November and peaked during June (9 cases, 26%). The incidence of SFTS was higher in the southern regions of South Korea. Age and neurologic symptoms, including decreased level of consciousness and slurred speech, were heavily associated with death; neurologic symptoms during the first week after disease onset were also associated with death. Although melena was common among patients who died, no other hemorrhagic manifestations were substantively more common among those who died. No effective treatments, including ribavirin, were identified. Expansion of SFTS surveillance to include the outpatient sector and development of an antibody test would enhance completeness of SFTS detection in South Korea.

[Sudden death and cardiovascular complications in Marfan syndrome: impact of surgical intervention].

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Ohtsubo, Satoshi; Itoh, Tsuyoshi

2005-07-01

Marfan syndrome is an autosomal dominant disorder of connective tissue characterized by abnormalities involving the skeletal, ocular, and cardiovascular systems. The cardiovascular complications of the syndrome lead to a reduced life expectancy for affected individuals if left untreated. Major cause of death include acute aortic dissection, aortic rupture, and sudden death, which resulted from congenital vascular fragility. Such life-threatening complications in Marfan syndrome can be managed effectively, by routine aortic imaging, beta-adrenergic blockade, and prophylactic replacement of the aortic root before the diameter exceeds 5.0 to 5.5 mm. Valve preserving aortic root reconstruction yielded improved postoperative quality of life compared with Bentall operation, by reducing late complications related to anticoagulants. It should be carried out before onset of aortic regurgitation for long-term native valve durability.

Sudden infant death syndrome and the genetics of inflammation

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Linda eFerrante

2015-02-01

Full Text Available Several studies report signs of slight infection prior to death in cases of sudden infant death syndrome (SIDS. Based on this, a hypothesis of an altered immunological homeostasis has been postulated. The cytokines are important cellular mediators that are crucial for infant health by regulating cell activity during the inflammatory process. The pro-inflammatory cytokines favor inflammation; the most important of these are IL-1α, IL-1β, IL-6, IL-8, IL-12, IL-18, TNF-α and IFN-γ. These cytokines are controlled by the anti-inflammatory cytokines. This is accomplished by reducing the pro-inflammatory cytokine production, and thus counteracts their biological effect. The major anti-inflammatory cytokines are interleukin 1 receptor antagonist (IL-1ra, IL-4, IL-10, IL-11, and IL-13. The last decade there has been focus on genetic studies within genes that are important for the immune system, for SIDS with a special interest of the genes encoding the cytokines. This is because the cytokine genes are considered to be the genes most likely to explain the vulnerability to infection, and several studies have investigated these genes in an attempt to uncover associations between SIDS and different genetic variants. So far the genes encoding IL-1, IL-6, IL-10 and TNF-α are the most investigated within SIDS research, and several studies indicates associations between specific variants of these genes and SIDS. Taken together this may indicate that in at least a subset of SIDS predisposing genetic variants of the immune genes are involved. However, the immune system and the cytokine network are complex, and more studies are needed in order to better understand the interplay between different genetic variations and how this may contribute to an unfavorable immunological response.

[Acute Stress and Broken Heart Syndrome. A Case Report].

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Vergel, Juliana; Tamayo-Orozco, Sebastián; Vallejo-Gómez, Andrés Felipe; Posada, María Teresa; Restrepo, Diana

Stress has been associated with an acute heart failure syndrome of important morbidity and mortality. Case report and non-systematic review of the relevant literature. A 65-year-old woman with a history of an untreated generalized anxiety disorder, whom after the violent death of her son presented with oppressive chest pain irradiated to neck and left superior extremity, lasting for more than 30minutes, initial clinical suspect suggests acute coronary syndrome. Tako-tsubo cardiomyopathy is characterized by a reversible left ventricular dysfunction and wall movement abnormalities, without any compromise of the coronary arteries, associated to high plasma levels of catecholamines which in most cases correlates with an acute stress of emotional or physical type. Tako-tsubo cardiomyopathy has to be considered by physicians among the differential diagnosis when facing a patient with suspected acute coronary syndrome, especially in post-menopausal women with a history of psychiatric comorbidities such as a generalized anxiety disorder. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Dummy (pacifier) use and sudden infant death syndrome: Potential advantages and disadvantages

NARCIS (Netherlands)

Horne, R.S.C.; Moon, R.Y; L'Hoir, M.P.; Blair, P.S.

2014-01-01

The large decline in deaths due to the sudden infant death syndrome (SIDS) in the last 20 years in many countries is largely due to risk-reduction advice resulting from observational studies that examined the relationship between infant care practices and SIDS. Most of this advice remains largely

Guillain-Barré Syndrome outbreak associated with Zika virus infection in French Polynesia: a case-control study.

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Cao-Lormeau, V M; Blake, A; Mons, S; Lastere, S; Roche, C; Vanhomwegen, J; Dub, T; Baudouin, L; Teissier, A; Larre, P; Vial, A L; Decam, C; Choumet, V; Halstead, S K; Willison, H J; Musset, L; Manuguerra, J C; Despres, P; Fournier, E; Mallet, H P; Musso, D; Fontanet, A; Neil, J; Ghawché, F

2016-04-09

Between October, 2013, and April, 2014, French Polynesia experienced the largest Zika virus outbreak ever described at that time. During the same period, an increase in Guillain-Barré syndrome was reported, suggesting a possible association between Zika virus and Guillain-Barré syndrome. We aimed to assess the role of Zika virus and dengue virus infection in developing Guillain-Barré syndrome. In this case-control study, cases were patients with Guillain-Barré syndrome diagnosed at the Centre Hospitalier de Polynésie Française (Papeete, Tahiti, French Polynesia) during the outbreak period. Controls were age-matched, sex-matched, and residence-matched patients who presented at the hospital with a non-febrile illness (control group 1; n=98) and age-matched patients with acute Zika virus disease and no neurological symptoms (control group 2; n=70). Virological investigations included RT-PCR for Zika virus, and both microsphere immunofluorescent and seroneutralisation assays for Zika virus and dengue virus. Anti-glycolipid reactivity was studied in patients with Guillain-Barré syndrome using both ELISA and combinatorial microarrays. 42 patients were diagnosed with Guillain-Barré syndrome during the study period. 41 (98%) patients with Guillain-Barré syndrome had anti-Zika virus IgM or IgG, and all (100%) had neutralising antibodies against Zika virus compared with 54 (56%) of 98 in control group 1 (pZika virus IgM and 37 (88%) had experienced a transient illness in a median of 6 days (IQR 4-10) before the onset of neurological symptoms, suggesting recent Zika virus infection. Patients with Guillain-Barré syndrome had electrophysiological findings compatible with acute motor axonal neuropathy (AMAN) type, and had rapid evolution of disease (median duration of the installation and plateau phases was 6 [IQR 4-9] and 4 days [3-10], respectively). 12 (29%) patients required respiratory assistance. No patients died. Anti-glycolipid antibody activity was found in 13

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

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Kashizaki Fumihiro

2013-02-01

Full Text Available Abstract Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease. Case presentation A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36. A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation. Conclusion We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

Death of a son is associated with risk of suicide among parous women in Taiwan: a nested case-control study.

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Chen, Chih-Cheng; Kuo, Chien-Chun; Wu, Trong-Neng; Yang, Chun-Yuh

2012-01-01

The impact of the sex of a deceased child on maternal suicide has not been studied. We examined whether the death of a child, especially a son, increased the risk of suicide among parous Taiwanese women. This matched case-control study was done within a cohort of 1 292 462 Taiwanese women who experienced a first and singleton childbirth between 1 January 1978 and 31 December 1987 and were followed up until 31 December 2008. From the cohort, 2701 suicide cases were identified and 2701 controls were randomly selected. Multiple logistic regression was used to estimate the risk of suicide associated with the death of a child. The adjusted odds ratios (ORs) for suicide among mothers whose son had died were 2.60 (95% CI = 1.18-5.73), 2.58 (1.28-5.20), and 4.20 (0.79-22.45) for death of a son aged younger than 1 year, 1 to 17 years, and 18 years or older. The ORs for suicide associated with the death of a daughter were not statistically significant: the respective adjusted ORs were 1.86 (0.82-4.62), 1.38 (0.54-3.49), and 2.48 (0.40-15.51). The death of a child, especially a son, increased the risk of maternal suicide, which supports the notion that preference for a son is firmly rooted in traditional Chinese culture.

Prune-belly syndrome: an autopsy case report.

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Vasconcelos, Marcela Arruda Pereira Silva; de Lima, Patricia Picciarelli

2014-01-01

Prune-belly syndrome (PBS) is a rare congenital anomaly characterized by a spectrum of mild-to-severe presentations of urinary tract malformations, deficient abdominal wall musculature, and cryptorchidism in male newborns or genital abnormalities in the female newborns. Currently, antenatal diagnosis is feasible with ultrasound examination, and treatment is based on case report experience. More recently, intrauterine management has been undertaken with encouraging results. The authors report a case of PBS diagnosed at the seventeenth gestation week, when ultrasonographic examination revealed the presence of ascites, distended bladder, thickened bladder wall and posterior urethral valve. The fetus was submitted to an intrauterine intervention at the nineteenth gestational week. Delivery occurred at 34 weeks of gestation and the newborn examination was consistent with PBS. On the second day of life, the newborn was submitted to abdominoplasty, colostomy, and orchiopexy. However, the outcome was unfavorable with respiratory failure and death on the fifteenth day of life. The autopsy confirmed the diagnosis of PBS, but the immediate cause of death was attributed to aspiration pneumonia.

Prune-belly syndrome: an autopsy case report

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Marcela Arruda Pereira Silva Vasconcelos

2014-12-01

Full Text Available Prune-belly syndrome (PBS is a rare congenital anomaly characterized by a spectrum of mild-to-severe presentations of urinary tract malformations, deficient abdominal wall musculature, and cryptorchidism in male newborns or genital abnormalities in the female newborns. Currently, antenatal diagnosis is feasible with ultrasound examination, and treatment is based on case report experience. More recently, intrauterine management has been undertaken with encouraging results. The authors report a case of PBS diagnosed at the seventeenth gestation week, when ultrasonographic examination revealed the presence of ascites, distended bladder, thickened bladder wall and posterior urethral valve. The fetus was submitted to an intrauterine intervention at the nineteenth gestational week. Delivery occurred at 34 weeks of gestation and the newborn examination was consistent with PBS. On the second day of life, the newborn was submitted to abdominoplasty, colostomy, and orchiopexy. However, the outcome was unfavorable with respiratory failure and death on the fifteenth day of life. The autopsy confirmed the diagnosis of PBS, but the immediate cause of death was attributed to aspiration pneumonia.

Catatonia, neuroleptic malignant syndrome, and cotard syndrome in a 22-year-old woman: a case report.

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Weiss, C; Santander, J; Torres, R

2013-01-01

The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as "I do not have a heart," "my heart is not beating," "I can not breathe," "I am breaking apart," "I have no head" (ideas of negation) and statements about the patient being responsible for the "death of the whole world" (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

Catatonia, Neuroleptic Malignant Syndrome, and Cotard Syndrome in a 22-Year-Old Woman: A Case Report

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C. Weiss

2013-01-01

Full Text Available The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as “I do not have a heart,” “my heart is not beating,” “I can not breathe,” “I am breaking apart,” “I have no head” (ideas of negation and statements about the patient being responsible for the “death of the whole world” (ideas of enormity. Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

A computer case definition for sudden cardiac death.

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Chung, Cecilia P; Murray, Katherine T; Stein, C Michael; Hall, Kathi; Ray, Wayne A

2010-06-01

To facilitate studies of medications and sudden cardiac death, we developed and validated a computer case definition for these deaths. The study of community dwelling Tennessee Medicaid enrollees 30-74 years of age utilized a linked database with Medicaid inpatient/outpatient files, state death certificate files, and a state 'all-payers' hospital discharge file. The computerized case definition was developed from a retrospective cohort study of sudden cardiac deaths occurring between 1990 and 1993. Medical records for 926 potential cases had been adjudicated for this study to determine if they met the clinical definition for sudden cardiac death occurring in the community and were likely to be due to ventricular tachyarrhythmias. The computerized case definition included deaths with (1) no evidence of a terminal hospital admission/nursing home stay in any of the data sources; (2) an underlying cause of death code consistent with sudden cardiac death; and (3) no terminal procedures inconsistent with unresuscitated cardiac arrest. This definition was validated in an independent sample of 174 adjudicated deaths occurring between 1994 and 2005. The positive predictive value of the computer case definition was 86.0% in the development sample and 86.8% in the validation sample. The positive predictive value did not vary materially for deaths coded according to the ICO-9 (1994-1998, positive predictive value = 85.1%) or ICD-10 (1999-2005, 87.4%) systems. A computerized Medicaid database, linked with death certificate files and a state hospital discharge database, can be used for a computer case definition of sudden cardiac death. Copyright (c) 2009 John Wiley & Sons, Ltd.

Sudden Death Following Exercise; a Case Series Study

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Fares Najari

2016-04-01

Full Text Available Introduction: Natural and unexpected death that happens within less than one hour of first symptom occurrence is called sudden death. Cardiovascular diseases are the main known reason of sudden death and more than 75% of sudden deaths in athletes are assigned to it. Here we reported the autopsy results of all cases with sudden death following exercise that were referred to forensic center of Tehran, Iran, from 2009 to 2014. Methods: In this cross sectional study all subjects who were registered to forensic medicine center of Tehran, Iran, from 2009 to 2014, as a case of sudden death following exercise were evaluated. Demographic data and medical history as well as autopsy and toxicology findings were retrospectively gathered using profiles of the deceased. Results were reported using descriptive analysis. Results: 14 cases were registered as sudden death following exercise in forensic medicine profiles during the study period. Exploring the files of the mentioned deceased, revealed five non-compatible cases in this regard. Finally, 9 eligible cases were enrolled (88.9% male. The mean age of the deceased was 28.66 ± 10.86 years (range: 7 – 40. Toxicological tests were available for 7 cases, one of which was positive for tramadol. Sudden death following football was reported most frequently (44.4%. Only 3 (33.3% cases had herald signs such as chest pain, syncope, or loss of consciousness. 1 case (11.11% had a positive history of sudden death in relatives. Conclusion: Although most sudden death victims are asymptomatic until the event, all those who suffer from symptoms such as chest pain, shortness of breath, dizziness, fatigue and irregular heart rate during physical activities, should be screened regarding common probable causes of sudden death.

Population-based family case-control proband study on familial aggregation of metabolic syndrome: finding from Taiwanese people involved in Keelung community-based integrated screening (KCIS no. 5).

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Chiu, Yueh-Hsia; Lin, Wen-Yuan; Wang, Po-En; Chen, Yao-Der; Wang, Ting-Ting; Warwick, Jane; Chen, Tony Hsiu-Hsi

2007-03-01

A population-based case-control proband study was undertaken to elucidate familial aggregation, independent environmental factors, and the interaction between them. A total of 7308 metabolic syndrome (MET-S) cases were identified from the Keelung community-based integrated screening programme between 1999 and 2002. The study has a case-control/family sampling design. A total of 1417 case probands were randomly selected from 3225 metabolic syndrome cases and the corresponding 2458 controls selected from 16,519 subjects without metabolic syndrome by matching on sex, age (+/-3 years) and place of residence. The generalized estimation equation model was used to estimate odds ratios and corresponding 95% confidence intervals. The risk for having metabolic syndrome among family members for cases versus control probands was 1.56-fold (1.29-1.89) after controlling for significant environmental factors. Higher risk of metabolic syndrome was found in parents than spouse. Low education against high education had 2.06-fold (1.36-3.13) risk for metabolic syndrome. Betel quid chewing was positively associated with the risk of MET-S, with 1.99-fold (1.13-3.53) risk for 1-9 pieces and 1.76-fold (0.96-3.23) risk for >or=10 pieces compared with non-chewer. Moderate and high intensity of non-occupational exercise led to 21.0% (OR=0.79 (0.63-0.98)) and 26.0% (OR=0.74 (0.59-0.94)) reduction in the risk for metabolic syndrome, respectively. The frequent consumption of vegetable reduced 24.0% (OR=0.76 (0.62-0.92)) risk for MET-S. The frequent consumption of coffee was associated the increased risk for metabolic syndrome (OR=1.32 (1.07-1.64)). The present study confirmed the risk of metabolic syndrome not only has the tendency towards familial aggregation but is affected by independent effect of environmental or individual correlates.

A dangerous twist of the ‘T’ wave: A case of Wellens’ Syndrome

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Kavitha Balasubramanian

2013-03-01

Full Text Available Wellens’ syndrome is a condition in which electrocardiographic (ECG changes indicate critical proximal left anterior descending artery narrowing occurring during the chest pain-free period. Due to the severity of the obstruction, if such cases are managed by early invasive revascularisation therapy, a major threat in the form of a massive myocardial infarction or sudden death may be averted. We present the case of a patient with previous chest pain, whose ECG showing subtle ischemic changes was initially overlooked. A repeat ECG taken during the painless period showed a biphasic T wave, suggestive of Wellen’s’ syndrome. This was confirmed by an immediate coronary angiogram.

Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh

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Md. Zahidus Sayeed

2014-01-01

Full Text Available Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh.

Sudden death in the first 2 years of life following immunization in the Republic of Korea.

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Choe, Young June; Kim, Jong-Hee; Son, Hyun Jin; Bae, Geun-Ryang; Lee, Duk-hyoung

2012-12-01

Because the peak age for incidence of sudden deaths in infancy temporally coincides with the age of infant primary immunization, some have raised the question as to whether immunization is a risk factor for sudden death in infancy. Recent occurrence of two sudden deaths in infants in Korea has renewed concerns about the causal association between immunization and sudden deaths in infants. We carried out a retrospective review of data from the Korea Centers for Disease Control and Prevention Adverse Events Following Immunization Surveillance System and Vaccine Compensation programs. From 1994 to 2011, a total of 45 cases of sudden deaths in the first 2 years of life following immunization were reported in Korea. The causes of death were classified as follows: infectious diseases (n= 13); accidental injuries (n= 7); congenital abnormalities (n= 2); and malignancy (n= 1). Of 20 sudden deaths in infancy, nine deaths met Brighton Collaboration case definition level I and II, and therefore were classified as possible sudden infant death syndrome cases. Hepatitis B vaccine (n= 13) was the most frequent vaccine with temporal association with sudden deaths in the first 2 years of life. Few sudden deaths in the first 2 years of life following immunization have been reported, despite the use of universal immunization in Korea. The majority of deaths in infancy did not meet case definition for sudden infant death syndrome. Encouraging investigators to perform thorough investigation, including postmortem autopsy and death scene examination, may promote data comparability and provide guidance on decision-making in the vaccine-safety monitoring and response system in Korea. © 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.

Assessment of Sleep and Breathing in Adults with Prader-Willi Syndrome: A Case Control Series

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Yee, Brendon J.; Buchanan, Peter R.; Mahadev, Sri; Banerjee, Dev; Liu, Peter Y.; Phillips, Craig; Loughnan, Georgina; Steinbeck, Kate; Grunstein, Ronald R.

2007-01-01

Objectives: Prader-Willi syndrome (PWS) is a genetic disorder (linked to chromosome 15q11-13) characterized by hypotonia and developmental delay, hyperphagia and obesity, hypersomnia and abnormal sleep, and behavioral problems. Such patients may also be at increased risk of obstructive sleep apnea (OSA), although whether this risk is explained by known risk factors has not previously been directly tested. Our aim was to compare sleep and breathing in an older group of patients with Prader-Willi syndrome with a control group—matched on the basis of age, sex, and body mass index (BMI)—in order to determine which specific features are not explained by these known confounders. Methods: Consecutive patients with PWS attending the PWS clinic at Royal Prince Alfred Hospital Sydney, Australia, were recruited. Age-, sex-, and BMI-matched controls were selected from the Sleep Investigation Unit at Royal Prince Alfred Hospital, and polysomnography-derived sleep and other parameters were compared across the groups. Results: Nineteen subjects with PWS (14 males) were included in the study. Eighteen (95 %) had a total respiratory disturbance index (TRDI) of greater than 5 events per hour, with 4 (21%) having severe obstructive sleep apnea (TRDI ≥ 30 events/hour) and 9 (47%) having evidence of obesity hypoventilation syndrome. Patients with PWS, as compared with the control group, had evidence of more nocturnal hypoxemia, with lower oxyhemoglobin saturations and percentages of sleep time at less than 80% oxyhemoglobin saturation (all p values Prader-Willi syndrome: a case control series. J Clin Sleep Med 2007;3(7):713–718. PMID:18198805

Ekiri syndrome: a report of 13 cases

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Rahbarimanesh AA

2009-02-01

Full Text Available "nBackground: Ekiri syndrome or lethal toxic encephalopathy is a complication of shigellosis with dysentery, hyperpyrexia, seizures, headache and altered level of consiousness, which rapidly progresses to death. These children die at the beginning of the disease (8-48 hours from the beginning of symptoms, from brain edema. However they had no symptoms or signs of sepsis, dehydration, DIC or Hemolytic Uremic Syndrome (HUS. "nMethods: This survey is a case series study of children with Ekiri syndrome in Bahrami hospital from October 1998-2008 presented with loss of consciousness, colitis and high fever shortly after admission. Information about the patients was gathered from the documents according to physical signs and symptoms, lab data of those whom Ekiri syndrome had been diagnosed for them. Studied variables in this assessment were age, sex, fever, convulsions and loss of consciousness. Headache, encephalopathy, dehydration, elevated ICP, colitis, underline disease, stool, blood and CSF cultures. "nResults: The subjects contain 13 cases (10 male, 3 female, averaged 30/5 months of age. All had seizure, elevated ICP, encephalopathy and coma. All of the patients had fever between 39 and 40, averaged 39.5 degree of centigrade. Seven patients had headache and three ones was dehydrated. The first presentation symptom in three patients was gastroenteritis, in 9 was siezure and in 1 patient was headache. Stool culture in all patients was positive, but blood culture was positive in only one of them. CSF culture was negative in all of the patients. Mortality was 100%. "nConclusion: Symptoms, signs and presentation of Ekiri syndrome, a rare complication of infection with shigella, in the patients in Bahrami hospital was similar with the other studies beforehand in other countries. In this study, all the patients were died and supportive treatments were ineffective.

Sudden infant death syndrome: an unrecognized killer in developing countries

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Ndu IK

2016-02-01

Full Text Available Ikenna Kingsley Ndu Department of Paediatrics, Enugu State University Teaching Hospital, Enugu, Nigeria Abstract: Sudden infant death syndrome (SIDS is defined as the sudden unexpected death of an infant <1 year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. SIDS contributes to infant mortality and resulted in ~15,000 deaths globally in 2013. Most of the risk factors of SIDS are common in developing countries; yet, there has been little interest in SIDS by researchers in Africa. This review looks at the extent of the attention given to SIDS in a developing country like Nigeria, and factors responsible for the scarce data concerning this significant cause of mortality. Keywords: SIDS, mortality, Nigeria

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

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Coulibaly, Béma; Sigaudy, Sabine; Girard, Nadine; Popovici, Cornel; Missirian, Chantal; Heckenroth, Hélène; Tasei, Anne-Marie; Fernandez, Carla

2010-01-01

Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

In-Hospital Death Prediction in Patients with Acute Coronary Syndrome

Czech Academy of Sciences Publication Activity Database

Monhart, Z.; Reissigová, Jindra; Zvárová, Jana; Grünfeldová, H.; Janský, P.; Vojáček, J.; Widimský, P.

2013-01-01

Roč. 1, č. 1 (2013), s. 52-52 ISSN 1805-8698. [EFMI 2013 Special Topic Conference. 17.04.2013-19.04.2013, Prague] Institutional support: RVO:67985807 Keywords : acute coronary syndrome * in-hospital death * prediction * multilevel logistic regression * non- PCI hospital Subject RIV: IN - Informatics, Computer Science

Gabapentin, opioids, and the risk of opioid-related death: A population-based nested case-control study.

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Tara Gomes

2017-10-01

Full Text Available Prescription opioid use is highly associated with risk of opioid-related death, with 1 of every 550 chronic opioid users dying within approximately 2.5 years of their first opioid prescription. Although gabapentin is widely perceived as safe, drug-induced respiratory depression has been described when gabapentin is used alone or in combination with other medications. Because gabapentin and opioids are both commonly prescribed for pain, the likelihood of co-prescription is high. However, no published studies have examined whether concomitant gabapentin therapy is associated with an increased risk of accidental opioid-related death in patients receiving opioids. The objective of this study was to investigate whether co-prescription of opioids and gabapentin is associated with an increased risk of accidental opioid-related mortality.We conducted a population-based nested case-control study among opioid users who were residents of Ontario, Canada, between August 1, 1997, and December 31, 2013, using administrative databases. Cases, defined as opioid users who died of an opioid-related cause, were matched with up to 4 controls who also used opioids on age, sex, year of index date, history of chronic kidney disease, and a disease risk index. After matching, we included 1,256 cases and 4,619 controls. The primary exposure was concomitant gabapentin use in the 120 days preceding the index date. A secondary analysis characterized gabapentin dose as low (<900 mg daily, moderate (900 to 1,799 mg daily, or high (≥1,800 mg daily. A sensitivity analysis examined the effect of concomitant nonsteroidal anti-inflammatory drug (NSAID use in the preceding 120 days. Overall, 12.3% of cases (155 of 1,256 and 6.8% of controls (313 of 4,619 were prescribed gabapentin in the prior 120 days. After multivariable adjustment, co-prescription of opioids and gabapentin was associated with a significantly increased odds of opioid-related death (odds ratio [OR] 1.99, 95% CI

A "Wear and Tear" Hypothesis to Explain Sudden Infant Death Syndrome.

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Elhaik, Eran

2016-01-01

Sudden infant death syndrome (SIDS) is the leading cause of death among USA infants under 1 year of age accounting for ~2,700 deaths per year. Although formally SIDS dates back at least 2,000 years and was even mentioned in the Hebrew Bible (Kings 3:19), its etiology remains unexplained prompting the CDC to initiate a sudden unexpected infant death case registry in 2010. Due to their total dependence, the ability of the infant to allostatically regulate stressors and stress responses shaped by genetic and environmental factors is severely constrained. We propose that SIDS is the result of cumulative painful, stressful, or traumatic exposures that begin in utero and tax neonatal regulatory systems incompatible with allostasis. We also identify several putative biochemical mechanisms involved in SIDS. We argue that the important characteristics of SIDS, namely male predominance (60:40), the significantly different SIDS rate among USA Hispanics (80% lower) compared to whites, 50% of cases occurring between 7.6 and 17.6 weeks after birth with only 10% after 24.7 weeks, and seasonal variation with most cases occurring during winter, are all associated with common environmental stressors, such as neonatal circumcision and seasonal illnesses. We predict that neonatal circumcision is associated with hypersensitivity to pain and decreased heart rate variability, which increase the risk for SIDS. We also predict that neonatal male circumcision will account for the SIDS gender bias and that groups that practice high male circumcision rates, such as USA whites, will have higher SIDS rates compared to groups with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among people that do not practice neonatal circumcision and/or cannot afford to pay for circumcision. We last predict that winter-born premature infants who are circumcised will be at higher risk of SIDS compared to infants who experienced fewer

Hepatopulmonary syndrome: a case report

NARCIS (Netherlands)

Huurnink, Arnold

2015-01-01

Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

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Linde C. M. van Dongen

2017-12-01

Full Text Available KBG syndrome is a neurodevelopmental disorder (NDD caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD/ intellectual disability (ID and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18 were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17, by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome.

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

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van Dongen, Linde C. M.; Wingbermühle, Ellen; Oomens, Wouter; Bos-Roubos, Anja G.; Ockeloen, Charlotte W.; Kleefstra, Tjitske; Egger, Jos I. M.

2017-01-01

KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome. PMID:29311865

A case of severe type of cerebro-costo-mandibular syndrome

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Matić Aleksandra

2016-01-01

Full Text Available Introduction. Cerebro-costo-mandibular syndrome (CCMS is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib defects. It is accompanied by mental deficiency in considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35-50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS. Case Outline. In this paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the age of 7.5 months. Conclusion. CCMS should be considered in every infant with micrognathia and rib-gap defects on chest X-ray.

Structural imaging biomarkers of sudden unexpected death in epilepsy.

Science.gov (United States)

Wandschneider, Britta; Koepp, Matthias; Scott, Catherine; Micallef, Caroline; Balestrini, Simona; Sisodiya, Sanjay M; Thom, Maria; Harper, Ronald M; Sander, Josemir W; Vos, Sjoerd B; Duncan, John S; Lhatoo, Samden; Diehl, Beate

2015-10-01

Sudden unexpected death in epilepsy is a major cause of premature death in people with epilepsy. We aimed to assess whether structural changes potentially attributable to sudden death pathogenesis were present on magnetic resonance imaging in people who subsequently died of sudden unexpected death in epilepsy. In a retrospective, voxel-based analysis of T1 volume scans, we compared grey matter volumes in 12 cases of sudden unexpected death in epilepsy (two definite, 10 probable; eight males), acquired 2 years [median, interquartile range (IQR) 2.8] before death [median (IQR) age at scanning 33.5 (22) years], with 34 people at high risk [age 30.5 (12); 19 males], 19 at low risk [age 30 (7.5); 12 males] of sudden death, and 15 healthy controls [age 37 (16); seven males]. At-risk subjects were defined based on risk factors of sudden unexpected death in epilepsy identified in a recent combined risk factor analysis. We identified increased grey matter volume in the right anterior hippocampus/amygdala and parahippocampus in sudden death cases and people at high risk, when compared to those at low risk and controls. Compared to controls, posterior thalamic grey matter volume, an area mediating oxygen regulation, was reduced in cases of sudden unexpected death in epilepsy and subjects at high risk. The extent of reduction correlated with disease duration in all subjects with epilepsy. Increased amygdalo-hippocampal grey matter volume with right-sided changes is consistent with histo-pathological findings reported in sudden infant death syndrome. We speculate that the right-sided predominance reflects asymmetric central influences on autonomic outflow, contributing to cardiac arrhythmia. Pulvinar damage may impair hypoxia regulation. The imaging findings in sudden unexpected death in epilepsy and people at high risk may be useful as a biomarker for risk-stratification in future studies. The Author (2015). Published by Oxford University Press on behalf of the Guarantors of

Differential effects of saturated fatty acids on the risk of metabolic syndrome: a matched case-control and meta-analysis study.

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Yang, Wei-Sin; Chen, Pei-Chun; Hsu, Hsiu-Ching; Su, Ta-Chen; Lin, Hung-Ju; Chen, Ming-Fong; Lee, Yuan-Teh; Chien, Kuo-Liong

2018-06-01

We investigated the association between plasma saturated fatty acids (SFAs) and the risk of metabolic syndrome among ethnic Chinese adults in Taiwan who attended a health check-up center. A case-control study based on 1000 cases of metabolic syndrome and 1:1 matched control participants (mean age, 54.9 ± 10.7 y; 36% females) were recruited. Metabolic syndrome was defined according to the criteria of the International Diabetes Federation. Gas chromatography was used to measure the distribution of fatty acids in plasma (% of total fatty acids). Even-chain SFAs, including 14:0, 16:0, and 18:0, were associated with metabolic syndrome; the adjusted odds ratio [OR] and 95% confidence interval [CI] per standard deviation [SD] difference was 3.32, [1.98-5.59]; however, very-long-chain SFAs, including 20:0, 21:0, 22:0, 23:0, and 24:0, were inversely associated with metabolic syndrome. The adjusted OR [95% CI] per SD difference was 0.67 [0.58-0.78]. The area under the receiver operative characteristic curve increased from 0.814 in the basic model to 0.815 (p = 0.54, compared with the basic model), 0.818 (p metabolic syndrome, implying that SFAs are not homogenous for the effects. Copyright © 2018 Elsevier Inc. All rights reserved.

Symptoms Before Sudden Arrhythmic Death Syndrome: A Nationwide Study Among the Young in Denmark.

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Glinge, Charlotte; Jabbari, Reza; Risgaard, Bjarke; Lynge, Thomas Hadberg; Engstrøm, Thomas; Albert, Christine M; Haunsø, Stig; Winkel, Bo Gregers; Tfelt-Hansen, Jacob

2015-07-01

No studies in an unselected and nationwide setting have characterized the symptoms and medical history of patients with sudden arrhythmic death syndrome (SADS). The aim of this study was to identify and describe the symptoms and medical history of patients before the presentation of SADS. We have previously identified all of the autopsied sudden cardiac deaths (SCD; n = 314) in Danes aged 1-35 years between 2000 and 2006. After comprehensive pathological and toxicological investigation did not reveal a cause of SCD, 136 of the patients were identified as SADS. The National Patient Registry was utilized to obtain information on all in- and outpatient activity in Danish hospitals. All medical records from hospitals and general practitioners, including death certificates and autopsy reports were reviewed. Before death, 48 (35%) SADS patients had cardiac symptoms; among these, 30 (22%) had contacted the healthcare system. Antecedent symptoms (symptoms >24 hours before death) were present in 34 (25%) patients. Prodromal symptoms (symptoms ≤24 hours before death) were present in 23 (17%) patients. Cardiac symptoms included chest pain (n = 16, 12%), dyspnea (n = 18, 13%), palpitations (n = 2, 1%), presyncope/syncope (n = 23, 17%), and aborted SCD (n = 2, 1%). In addition, seizures (n = 25, 18%) were prevalent. In 61 (45%) SADS cases, no previous medical history were recorded. In this unselected, nationwide study of 136 young SADS patients, 35% had experienced cardiac symptoms before death, most commonly presyncope/syncope, but only one out of five had contacted a healthcare provider with cardiac symptoms. © 2015 Wiley Periodicals, Inc.

Peculiar alexithymic traits in burning mouth syndrome: case-control study.

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Marino, Roberto; Picci, Rocco Luigi; Ferro, Giovanni; Carezana, Claudio; Gandolfo, Sergio; Pentenero, Monica

2015-11-01

The present case-control study aims to assess the occurrence of alexithymic traits in burning mouth syndrome (BMS) subjects and to correlate alexithymic traits to anxious and depressive traits in BMS subjects. Prospectively enrolled BMS and control subjects were administered the 20-item Toronto Alexithymia Scale (TAS-20). Anxiety and depressive traits were assessed using the Hamilton Anxiety Rating Scale and the Montgomery and Asberg Depression Rating Scale. Occurrence of alexithymic traits was compared between BMS and control subjects. Correlation tests were used to measure the importance of alexithymic traits related to demographic characteristics, pain intensity (VAS score), and to the other psychometric scores. Fifty-eight BMS subjects (46 females and 12 males) had a mean TAS-20 score significantly higher when compared to controls (p < 0.001; r = 0.72), corresponding to an occurrence rate of alexithymic traits of 79.3 versus 6.9%. Alexithymic traits in BMS subjects were just related to depressive traits (p = 0.02; ρ = 0.31). The high occurrence of alexithymia in BMS is an adjunctive issue in favor of its multifactorial pathogenesis, with a not negligible role for somatization. Clinicians should be aware of the high occurrence of alexithymic traits among BMS subjects as such traits may affect the doctor-patient relationship.

Association between Two Resistin Gene Polymorphisms and Metabolic Syndrome in Jilin, Northeast China: A Case-Control Study

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Yingli Fu

2017-01-01

Full Text Available Metabolic syndrome (MetS is a significant health care problem worldwide and is characterized by increased fasting glucose and obesity. Resistin is a protein hormone produced both by adipocytes and immunocompetent cells, including those residing in adipose tissue, and is believed to modulate glucose tolerance and insulin action. This study examined the association of resistin gene polymorphisms, rs1862513 and rs3745368, and related haplotypes with the development of metabolic syndrome in a Han Chinese population. This case-control study was performed on 3792 subjects, including 1771 MetS cases and 2021 healthy controls from the Jilin province of China. Metabolic syndrome was defined according to the criteria of the International Diabetes Federation (IDF. Logistic regression analysis was used to estimate the relationship between gene polymorphism and MetS. Our results showed that there were no significant associations between MetS and the genotype distributions in four kinds of inheritance models, allele frequencies, and related haplotypes of resistin gene polymorphisms rs1862513 and rs3745368 (all p values > 0.05. Based on our study findings, we concluded that mutations in resistin genes are not associated with the presence of MetS in a Han Chinese population from Jilin province in China.

Worst case bioethics: death, disaster, and public health

National Research Council Canada - National Science Library

Annas, George J

2010-01-01

... intentionally left blank IntroductionIntroduction Scared to Death Death is almost everyone's personal worst case scenario. Society's worst case scenario, at least in America, is the disaster of la...

[Forensic analysis of death caused by fat embolism: A study of 20 autopsy cases].

Science.gov (United States)

Zhou, Lan; Mu, Jiao; Dong, Hong-Mei; Zhang, Ji

2013-12-01

To analyze the general and forensic pathological characteristics of death due to fat embolism syndrome (FES) and to provide reference data for forensic identification. Twenty autopsy cases due to FES were selected from the forensic center of a medical college from 1999 to 2012. The general and forensic pathological characteristics such as the ways and types of injuries, clinical manifestation and the pathological changes were summarized. Fat embolism mainly occurred after long bone fracture or a large area of soft tissue injury with the majority of cases being fat embolism of lung and occasional cases being combined embolisms of lung and brain as well. The onset of symptoms appeared shortly after the injury or surgery. Lipid droplets could be observed within small pulmonary vessels and verified by special staining. There are particular characteristics in death due to FES in concern with types of injuries, onset of symptoms and pathological findings. In order to find out the direct evidence of FES, special staining (oil red O staining) can be used in the forensic identification.

Bilateral post-traumatic gluteal compartment syndrome: A case report and review of literature

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Devashis Barick

2015-01-01

Full Text Available Gluteal compartment is a rare site for compartment syndrome. Gluteal compartment syndrome has most commonly been described in the literature as occurring after prolonged immobility associated with substance abuse, improper operative positioning, sickle cell-induced infarct, post-traumatic and spontaneous superior gluteal artery rupture, exercise, and post-arterial embolization of the internal iliac artery prior to abdominal aortic aneurysm repair. Trauma is rarely associated with this syndrome. Gluteal compartment syndrome occurs in approximately 0.9% of trauma patients. Posttraumatic gluteal compartment syndrome develops because of edema with traumatic contusions, crush injuries and hematoma formation due to blunt superior or inferior gluteal artery injuries in all compartments of the gluteal region Only 6 previous cases have been reported in the literature. Two previous cases involved positioning for urological procedures, while the other cited causes of bilateral gluteal compartment syndrome include exercise-induced, trauma, and prolonged immobilization from substance abuse. One of the most immediately devastating results of a missed compartment syndrome is the risk of the development of rhabdomyolysis with the resulting squeal of myoglobinuria, hyperkalemia, and acidosis resulting in renal failure, shock, multiple organ failure, disseminated intravascular coagulation, and possibly death. Here we report a case of posttraumatic bilateral compartment syndrome which developed secondary to pressure due to patient being trapped under a vehicle following a vehicular accident. He was operated upon and a bilateral fasciotomy was done. Although he did not develop any renal complications, the sciatic nerve palsy on the left side did not recover. The patient is still under follow up.

Premature death of adult adoptees: analyses of a case-cohort sample.

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Petersen, Liselotte; Andersen, Per Kragh; Sørensen, Thorkild I A

2005-05-01

Genetic and environmental influence on risk of premature death in adulthood was investigated by estimating the associations in total and cause-specific mortality of adult Danish adoptees and their biological and adoptive parents. Among all 14,425 non-familial adoptions formally granted in Denmark during the period 1924 through 1947, we selected the study population according to a case-cohort sampling design. As the case-control design, the case-cohort design has the advantage of economic data collection and little loss in statistical efficiency, but the case-cohort sample has the additional advantages that rate ratio estimates may be obtained, and re-use of the cohort sample in future studies of other outcomes is possible. Analyses were performed using Kalbfleisch and Lawless's estimator for hazard ratio, and robust estimation for variances. In the main analyses the sample was restricted to birth years of the adoptees 1924 and after, and age of transfer to the adoptive parents before 7 years, and age at death was restricted to 16 to 70 years. The results showed a higher mortality among adoptees, whose biological parents died in the age range of 16 to 70 years; this was significant for deaths from natural causes, vascular causes and all causes. No influence was seen from early death of adoptive parents, regardless of cause of death. (c) 2005 Wiley-Liss, Inc.

Prune belly syndrome--report of 47 cases.

Science.gov (United States)

Woodhouse, C R; Ransley, P G; Innes-Williams, D

1982-01-01

Forty-seven cases of prune belly syndrome in children born between 1948 and 1977 are described. They have been classified into three groups according to the state of the urinary tract in the neonatal period. The results achieved in these cases form the basis of our present management. In group I, the most severely affected, early death is inevitable. In group 2 the children are ill as neonates; high diversion is often required and later reconstruction may be possible. Group 3 patients are healthy as neonates and little reconstructive surgery is required. The prognosis in groups 2 and 3 is good. Half the group 2 children and three-quarters of the group 3 children grew up normally with satisfactory renal function and health. It is important to establish free drainage of the urinary tract and avoid infection. Images Figure PMID:6128960

Bertolotti's syndrome: a case report.

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Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

[Management and Nursing care for a patient with Lynch syndrome: A case report].

Science.gov (United States)

Pacheco-Pérez, Luis Arturo; Guevara Valtier, Milton Carlos

2016-01-01

Colorectal cancer is one of the leading causes of death from cancer worldwide. Main interventions to reduce the impact are aimed to enhance prevention and early detection. Results of several studies show that tests such as the fecal occult blood test and colonoscopy are effective for early diagnosis. There are hereditary syndromes such as Lynch Syndrome that can lead to certain types of cancers, including bowel neoplasms, therefore early detection needs to be included as part of the treatment. In these cases, family genetic testing is recommended if the bowel cancer is diagnosed before 50 years old. A care plan including the NANDA (North American Nursing Diagnosis Association), NOC (Nursing Outcomes Classification) and NIC (Nursing Interventions Classification) was developed for a patient with suspected Lynch Syndrome. Nurses should be qualified to identify potential cases of cancer associated with this syndrome, and thus, reduce the likelihood that family members develop the disease, through genetic counseling and education of environmental risk factors. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

Cannabis, possible cardiac deaths and the coroner in Ireland.

LENUS (Irish Health Repository)

Tormey, W P

2012-01-10

BACKGROUND: The elevated risk of triggering a myocardial infarction by smoking cannabis is limited to the first 2 h after smoking. AIM: To examine the possible role of cannabis in cardiac deaths. CASES AND RESULTS: From 3,193 coroners\\' cases over 2 years, there were 13 cases where the clinical information was compatible with a primary cardiac cause of death. An inquest was held in three cases. Myocardial infarction was the primary cause of death in 54%. Other causes were sudden adult death syndrome, sudden death in epilepsy, and poisoning by alcohol and diazepam. Cannabis was mentioned once only on a death certificate, but not as a cause of death. Blood delta9-tetrahydrocannabinol-carboxylic acid was recorded in one case and in no case was plasma tetrahydrocannabinol (THC) measured. CONCLUSIONS: To attribute sudden cardiac death to cannabis, plasma THC should be measured in the toxicology screen in coroners\\' cases where urine cannabinoids are positive. A positive urine cannabinoids immunoassay alone is insufficient evidence in the linkage of acute cardiac death and cannabis.

Cannabis, possible cardiac deaths and the coroner in Ireland.

Science.gov (United States)

Tormey, W P

2012-12-01

The elevated risk of triggering a myocardial infarction by smoking cannabis is limited to the first 2 h after smoking. To examine the possible role of cannabis in cardiac deaths. CASES AND RESULTS: From 3,193 coroners' cases over 2 years, there were 13 cases where the clinical information was compatible with a primary cardiac cause of death. An inquest was held in three cases. Myocardial infarction was the primary cause of death in 54%. Other causes were sudden adult death syndrome, sudden death in epilepsy, and poisoning by alcohol and diazepam. Cannabis was mentioned once only on a death certificate, but not as a cause of death. Blood delta9-tetrahydrocannabinol-carboxylic acid was recorded in one case and in no case was plasma tetrahydrocannabinol (THC) measured. To attribute sudden cardiac death to cannabis, plasma THC should be measured in the toxicology screen in coroners' cases where urine cannabinoids are positive. A positive urine cannabinoids immunoassay alone is insufficient evidence in the linkage of acute cardiac death and cannabis.

Cardiovascular and metabolic syndrome risk among men with and without erectile dysfunction: case-control study

OpenAIRE

Zambon, João Paulo; Mendonça, Rafaela Rosalba de; Wroclawski, Marcelo Langer; Karam Junior, Amir; Santos, Raul D.; Carvalho, José Antonio Maluf de; Wroclawski, Eric Roger

2010-01-01

CONTEXT AND OBJECTIVE: Erectile dysfunction has been associated with cardiovascular diseases. The aim here was to evaluate cardiovascular risk through the Framingham Risk Score (FRS) criteria, C-reactive protein (CRP) assays and presence of metabolic syndrome (MS) in men with and without erectile dysfunction diagnosed within a healthcare program. DESIGN AND SETTING: A retrospective case-control study was conducted. The patients were selected from a healthcare program at the Hospital Israelita...

Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.

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Stanga, Z; Brunner, A; Leuenberger, M; Grimble, R F; Shenkin, A; Allison, S P; Lobo, D N

2008-06-01

The refeeding syndrome is a potentially lethal complication of refeeding in patients who are severely malnourished from whatever cause. Too rapid refeeding, particularly with carbohydrate may precipitate a number of metabolic and pathophysiological complications, which may adversely affect the cardiac, respiratory, haematological, hepatic and neuromuscular systems leading to clinical complications and even death. We aimed to review the development of the refeeding syndrome in a variety of situations and, from this and the literature, devise guidelines to prevent and treat the condition. We report seven cases illustrating different aspects of the refeeding syndrome and the measures used to treat it. The specific complications encountered, their physiological mechanisms, identification of patients at risk, and prevention and treatment are discussed. Each case developed one or more of the features of the refeeding syndrome including deficiencies and low plasma levels of potassium, phosphate, magnesium and thiamine combined with salt and water retention. These responded to specific interventions. In most cases, these abnormalities could have been anticipated and prevented. The main features of the refeeding syndrome are described with a protocol to anticipate, prevent and treat the condition in adults.

A case of severe type of cerebro-costo-mandibular syndrome.

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Matić, Aleksandra; Velisavljev-Filipović, Gordana; Lovrenski, Jovan; Gajdobranski, Djordje

2016-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib defects. It is accompanied by mental deficiency in considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35–50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS. In this paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the age of 7.5 months. CCMS should be considered in every infant with micrognathia and rib-gap defects on chest X-ray.

BRUGADA SYNDROME-A CASE REPORT

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Kuževska-Maneva Konstandina

2016-03-01

Full Text Available Brugada syndrome is a type of arrhythmia disorder, which is characterised by abnormal electrocardiogram (ECG findings and an increased risk of sudden cardiac death. The most frequent sign is a persistent ST elevation in the electrocardiographic leads V1-V3 with a right bundle branch block (RBBB.We present a case of 12 years old healthy child, without any complains until then. He had 2 episodes of collapse/syncope, which lasted long and spontaneously disappeared. The collapses were provoked by physical activity. On ECG we found sinus rhythm 62 bpm, RBBB (right bundle brunch block and Brugada signs in V2 and V3 channel-ST elevation ≥ 2mm. The child was sent in electrophysiological centre abroad where the electrophysiological study was performed. They did not found any accessory pathway. The atrioventricular (AV conduction was normal. Long lasting polymorphic ventricular tachycardia/fibrillation was induced with programed stimulation with 3 extrastimuli in right ventricular outflow tract. Performing one defibrillation the rhythm turned in sinus way. Then they performed ECG with translocation of electrodes V1-3 in 2nd intercostal space and the Brugada I type findings was discovered. After confirming of presence of Brugada type -1 syndrome the implantable cardioverter- defibrillator (ICD was applied on child heart.

Misdiagnosis of Bland-White-Garland Syndrome: Report of Two Cases with Different Presentations

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Akbar Molaei

2014-03-01

Full Text Available Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA or Bland-White-Garland syndrome is usually an isolated cardiac anomaly but, in rare incidences, has been described with patent ductus arteriosus, ventricular septal defect, and tetralogy of Fallot. This syndrome may cause sudden death in infants and young people but in this case report we present two different types of presentation. First case was a 3 year old girl diagnosed with dilated cardiomyopathy since her infancy. Her electrocardiography showed prominent Q wave in lateral leads. Dilated right coronary artery was revealed by echocardiography. The second case was a girl with prolapsed mitral valve and chest pain but similar to first case she had prominent Q wave in lateral leads at her electrocardiography and dilated right coronary artery but without heart failure. ALCAPA in children may present with ambiguous presentations differing from dilated cardiomyopathy and full blown heart failure to an atypical chest pain attributed to prolapsed mitral valve.

[Psychosis Associated With Fahr's Syndrome: A Case Report].

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Cassiani-Miranda, Carlos Arturo; Herazo-Bustos, Mariana; Cabrera-González, Armando; Cadena-Ramos, Ivan; Barrios-Ayola, Francisco

2015-01-01

Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Case report. The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Risk factors associated with hantavirosis fatality: a regional analysis from a case-control study in Brazil

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Maria Cristina Antunes Willemann

2014-01-01

Full Text Available Introduction: In Brazil, hantavirus cardiopulmonary syndrome (HCPS has a high lethality rate that varies by region. This study aimed to identify the risk factors associated with fatal hantavirosis. Methods: This study was a case-control study that included all laboratory confirmed cases of hantavirosis. The cases were stratified by the different Brazilian regions using data from the Notifiable Diseases Information System. “Cases” were patients who progressed to death, whereas “controls” were patients who were cured. The odds ratio (OR and the adjusted OR were calculated. Results: Overall, 158 cases and 281 controls were included in this study. In the Midwest region, the cases were 60% less likely to present with flank pain, and the time between the beginning of symptoms and death was shorter than the time between the beginning of symptoms and a cure. In the Southeast region, the cases were 60% less likely to present with thrombocytopenia or reside in rural areas compared to those who progressed to a cure. Additionally, the cases sought medical assistance, notification and investigation more quickly than the controls. In the Southern region, the cases that died were 70% less likely to be male compared to the controls. Conclusions: HCPS manifests with nonspecific symptoms, and there are few published studies related to the condition, so determining a patient's therapeutic strategy is difficult. This study presents findings from different Brazilian regions and highlights the need for further investigations to improve comprehension about regional risk factors associated with hantavirosis and to reduce morbimortality.

The Brugada Syndrome Unmasked by Fever in a Two-Year-Old Child: Case Report

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Ghandi

2016-02-01

Full Text Available Introduction Brugada syndrome (BrS is an autosomal-dominant inherited cardiac arrhythmia that occurs due to sodium channelopathy and increases sudden cardiac death due to episodes of polymorphic ventricular tachyarrhythmia. It is characterized by ST-segment elevation in the right precordial leads and right bundle branch block (RBBB pattern. We herewith present a case of Brugada syndrome with an unusual presentation. Case Presentation A 2.5-year-old girl with a history of quadriplegic cerebral palsy was admitted due to aspiration pneumonia. Cardiovascular examination and echocardiography was normal. She had a history of surgery for gastro esophageal reflux disease and was under treatment with pantoprazole. Electrocardiogram revealed ST-segment elevation in the right precordial leads (V1 - V3. The patient died during hospitalization due to cardiac arrest before any intervention. Conclusions The most important feature of Brugada syndrome is clinically suspicion. Therefore it should be considered in cases with uncontrolled seizures, stroke, refractory seizures, recurrent syncope, repeated attacks VT and conduct disorders like RBBB in the absence of structural cardiac and metabolic disorders.

Age and closeness of death as determinants of health and social care utilization: a case-control study.

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Forma, Leena; Rissanen, Pekka; Aaltonen, Mari; Raitanen, Jani; Jylhä, Marja

2009-06-01

We used case-control design to compare utilization of health and social services between older decedents and survivors, and to identify the respective impact of age and closeness of death on the utilization of services. Data were derived from multiple national registers. The sample consisted of 56,001 persons, who died during years 1998-2000 at the age of > or = 70, and their pairs matched on age, gender and municipality of residence, who were alive at least 2 years after their counterpart's death. Data include use of hospitals, long-term care and home care. Decedents' utilization within 2 years before death and survivors' utilization in the same period of time was assessed in three age groups (70-79, 80-89 and > or = 90 years) and by gender. Decedents used hospital and long-term care more than their surviving counterparts, but the time patterns were different. In hospital care the differences between decedents and survivors rose in the last months of the study period, whereas in long-term care there were clear differences during the whole 2-year period. The differences were smaller in the oldest age group than in younger age groups. Closeness of death is an important predictor of health and social service use in old age, but its influence varies between age groups. Not only the changing age structure, but also the higher average age at death affects the future need for services.

Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.

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Márquez, Manlio F; Cruz-Robles, David; Ines-Real, Selene; Vargas-Alarcón, Gilberto; Cárdenas, Manuel

2015-01-01

Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

Socioeconomic factors affecting infant sleep-related deaths in St. Louis.

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Hogan, Cathy

2014-01-01

Though the Back to Sleep Campaign that began in 1994 caused an overall decrease in sudden infant death syndrome (SIDS) rates, racial disparity has continued to increase in St. Louis. Though researchers have analyzed and described various sociodemographic characteristics of SIDS and infant deaths by unintentional suffocation in St. Louis, they have not simultaneously controlled for contributory risk factors to racial disparity such as race, poverty, maternal education, and number of children born to each mother (parity). To determine whether there is a relationship between maternal socioeconomic factors and sleep-related infant death. This quantitative case-control study used secondary data collected by the Missouri Department of Health and Senior Services between 2005 and 2009. The sample includes matched birth/death certificates and living birth certificates of infants who were born/died within time frame. Descriptive analysis, Chi-square, and logistic regression. The controls were birth records of infants who lived more than 1 year. Chi-square and logistic regression analyses confirmed that race and poverty have significant relationships with infant sleep-related deaths. The social significance of this study is that the results may lead to population-specific modifications of prevention messages that will reduce infant sleep-related deaths. © 2013 Wiley Periodicals, Inc.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

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Shukla Umesh

2010-11-01

Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Severe tooth wear in Prader-Willi syndrome. A case-control study.

Science.gov (United States)

Saeves, Ronnaug; Espelid, Ivar; Storhaug, Kari; Sandvik, Leiv; Nordgarden, Hilde

2012-05-28

Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome. Forty-nine individuals (6-40 years) with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners using the Visual Erosion Dental Examination (VEDE) scoring system and the individual tooth wear index IA. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected. Mean VEDE score was 1.70 ± 1.44 in the PWS group and 0.46 ± 0.36 in the control group (p Prader-Willi syndrome. There is therefore considerable need for prosthodontic rehabilitation in young adults with PWS.

[Williams-Beuren syndrome (Williams syndrome). Case report].

Science.gov (United States)

Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

Waardenburg syndrome: A rare case

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Shivlal M Rawlani

2018-01-01

Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

The influence of the microbial factor on the death of animals by intestinal radiation syndrome

International Nuclear Information System (INIS)

Kudryavtsev, V.D.; Kartasheva, A.L.; Tsyran, N.I.

1979-01-01

Data obtained in rats and mice irradiated with 900 - 1600 rad 60 Co gamma radiation point to an important role of the microbial factor in the 'intestinal death'. At the climax of the intestinal syndrome dysbacterial conditions developed violently in the intestinal content under predominance of putrefactive bacteria (Proteus). The application of kanamycin according to an elaborated pattern completely suppressed the proteus growth in the intestine and decreased considerably the content of obligatory representatives of the intestinal flora by which most of the animals could survive the time of 'intestinal death' (3rd to 5th day) after irradiation with relatively low doses (900 - 1200 rad). With increasing radiation doses (up to 1400 rad and more) the antibacterial therapy became uneffective because of the increasing importance of other lethal factors. The analysis of these results as well as literature data allow the conclusion that microbial intoxication plays a leading role in the death of the animals at the initial period and at the climax of the intestinal syndrome (3rd to 4th day). At the final stage of the development of the intestinal syndrome (5th day) septicaemia supervened. (author)

Brugada Syndrome: Are we doing enough to prevent sudden death?

International Nuclear Information System (INIS)

Buksh, Jahangir A.; Al-Hersi, Ahmad S.; Al-Nozha, Mansour M.

2007-01-01

Burgada syndrome (BS) is an inherited arrythmogenic disease characterized by typical ECG changes in the form of an SR pattern in VI to V2, and ST segment elevation in VI to V3 and prolongation of the QT interval in right precordial leads. This syndrome carries an increased risk of sudden death due to arrhythmias. This disease was first described in 1992 by Joseph Brugada et al and was named Brugada syndrome by Yan and Antzelvich in 1996. By 2003 more than 600 patients had been reported by Brugada et al and hundreds by others. A genetic aspect to BS is now recognized and been linked to the alpha subunit of the cardiac sodium channel gene SCN5A. Over five dozen mutations in SCN5A have been identified. Accentuation of the right ventricular notch under pathophysiological conditions leads to exaggeration of the J-wave or J-point elevation and a saddle-shaped configuration of the repolarisation waves. Diagnosis is essentially by electrocardiogram either by spontaneous changes or by provocation by sodium channel blockers drugs, e.g., procainamide, flecainide. The role of electrophysiological studies in induction of arrhythmia in asymptomatic individuals by electron beam computed tomography and signal-averaged electrocardiogram is not settled. Unfortunately, an effective drug is not available is not available at present, but quinidine has a place in treatment. New promising drugs are emerging like cilostazol and tedisamil. At present, implantation of an ICD is the only effective means of preventing sudden death. (author)

Death of a Son is Associated With Risk of Suicide Among Parous Women in Taiwan: A Nested Case-Control Study

OpenAIRE

Chen, Chih-Cheng; Kuo, Chien-Chun; Wu, Trong-Neng; Yang, Chun-Yuh

2012-01-01

Background The impact of the sex of a deceased child on maternal suicide has not been studied. We examined whether the death of a child, especially a son, increased the risk of suicide among parous Taiwanese women. Methods This matched case-control study was done within a cohort of 1 292 462 Taiwanese women who experienced a first and singleton childbirth between 1 January 1978 and 31 December 1987 and were followed up until 31 December 2008. From the cohort, 2701 suicide cases were identifie...

Compartment syndrome after total knee arthroplasty: regarding a clinical case

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Ana Alexandra da Costa Pinheiro

2015-08-01

Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

Science.gov (United States)

Byard, Roger W

2016-05-01

A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman. © 2016 American Academy of Forensic Sciences.

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

Science.gov (United States)

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Idiopathic Harlequin syndrome – case report

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Marcelina Grochowiec

2015-09-01

Full Text Available Introduction. Harlequin syndrome is a very rare neurological condition characterized by redness and excessive sweating of one half of the face in response to exercise and emotions. In most cases this disorder is not life-threatening. Objective. To present diagnostic difficulties of Harlequin syndrome in dermatological practice. Case report. We present a case of a 30-year-old man with redness and excessive sweating of the right half of the face as a result of exercise that was observed during the diagnosis of chronic urticaria at the Department of Dermatology. The patient was examined ophthalmologically and neurologically, had a CT scan of the head, and the Minor test performed. Idiopathic Harlequin syndrome was diagnosed based on case history and workup results. Conclusions . Harlequin syndrome occurs most often in the form of an idiopathic condition, but neurologic and ophthalmologic assessment should be performed since some diseases, such as brainstem infarction and schwannoma of the upper chest, may initially appear as Harlequin syndrome.

Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report

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Dantas Clarissa R

2010-07-01

Full Text Available Abstract Introduction Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. Case presentation We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. Conclusion In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a

A “wear and tear” hypothesis to explain Sudden Infant Death Syndrome (SIDS

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Eran Elhaik

2016-10-01

Full Text Available Sudden Infant Death Syndrome (SIDS is the leading cause of death in USA infants under one year of age accounting for approximately 2,700 deaths per year. Although formally SIDS dates back at least 2,000 years and was even mentioned in the Hebrew Bible (Kings 3:19 its etiology remains unexplained prompting the CDC to initiate a sudden unexpected infant death case registry in 2010. Due to their total dependence, the ability of the infant to allostatically regulate stressors and stress responses shaped by genetic and environmental factors is severely constrained. We propose that SIDS is the result of cumulative painful, stressful, or traumatic exposures that begin in utero and tax neonatal regulatory systems incompatible with allostasis. We also identify several putative biochemical mechanisms involved in SIDS. We argue that the important characteristics of SIDS, namely male predominance (60:40, the significantly different SIDS rate in USA Hispanics (80% lower compared to whites, 50% of cases occurring between 7.6 and 17.6 weeks after birth with only 10% after 24.7 weeks, and seasonal variation with most cases occurring during winter, are all associated with common environmental stressors, such as neonatal circumcision and seasonal illnesses. We predict that neonatal circumcision is associated with hypersensitive to pain and decreased heart rate variability which increase the risk for SIDS. We also predict that neonatal male circumcision will account for the SIDS gender bias and that cultures that practice high male circumcision rates, like USA whites, will have higher SIDS rates compared to cultures with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among cultures that do not practice neonatal circumcision and/or cannot afford to pay for circumcision. We last predict that winter-born premature infants who are circumcised will be at higher risk of SIDS compared to infants who

Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases

DEFF Research Database (Denmark)

Hertz, Christin Loeth; Christiansen, Sofie Lindgren; Larsen, Maiken Kudahl

2016-01-01

Sudden infant death syndrome (SIDS) is the most frequent manner of post-perinatal death among infants. One of the suggested causes of the syndrome is inherited cardiac diseases, mainly channelopathies, that can trigger arrhythmias and sudden death. The purpose of this study was to investigate cases...... frequency, in one or more of the genes screened. The possible effects of the variants were not verified with family or functional studies. Eight (17%) of the SUDI cases had variants in genes affecting ion channel functions. The remaining eight cases had variants in genes associated with cardiomyopathies...

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

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Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

2010-11-08

We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable with an age- and gender-matched control population: case-control study with expert pathology review.

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Vleugels, Jasper L A; Sahin, Husna; Hazewinkel, Yark; Koens, Lianne; van den Berg, Jose G; van Leerdam, Monique E; Dekker, Evelien

2018-05-01

Carcinogenesis in Lynch syndrome involves fast progression of adenomas to colorectal cancer (CRC) because of microsatellite instability. The role of sessile serrated lesions (SSLs) and the serrated neoplasia pathway in these patients is unknown. The aim of this matched case-control study was to compare endoscopic detection rates and distribution of SSLs in Lynch syndrome patients with a matched control population. We collected data of Lynch syndrome patients with a proven germline mutation who underwent colonoscopy between January 2011 and April 2016 in 2 tertiary referral hospitals. Control subjects undergoing elective colonoscopy from 2011 and onward for symptoms or surveillance were selected from a prospectively collected database. Patients were matched 1:1 for age, gender, and index versus surveillance colonoscopy. An expert pathology review of serrated polyps was performed. The primary outcomes included the detection rates and distribution of SSLs. We identified 321 patients with Lynch syndrome who underwent at least 1 colonoscopy. Of these, 223 Lynch syndrome patients (mean age, 49.3; 59% women; index colonoscopy, 56%) were matched to 223 control subjects. SSLs were detected in 7.6% (95% confidence interval, 4.8-11.9) of colonoscopies performed in Lynch syndrome patients and in 6.7% (95% confidence interval, 4.1-10.8) of control subjects (P = .86). None of the detected SSLs in Lynch syndrome patients contained dysplasia. The detection rate of SSLs in Lynch syndrome patients undergoing colonoscopy is comparable with a matched population. These findings suggest that the role of the serrated neoplasia pathway in CRC development in Lynch syndrome seems to be comparable with that in the general population. Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

Systematic review of case reports of antiphospholipid syndrome following infection.

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Abdel-Wahab, N; Lopez-Olivo, M A; Pinto-Patarroyo, G P; Suarez-Almazor, M E

2016-12-01

The objective of this study was to conduct a systematic review of case reports documenting the development of antiphospholipid syndrome or antiphospholipid syndrome-related features after an infection. We searched Medline, EMBASE, Web of Science, PubMed ePubs, and The Cochrane Library - CENTRAL through March 2015 without restrictions. Studies reporting cases of antiphospholipid syndrome or antiphospholipid syndrome-related features following an infection were included. Two hundred and fifty-nine publications met inclusion criteria, reporting on 293 cases. Three different groups of patients were identified; group 1 included patients who fulfilled the criteria for definitive antiphospholipid syndrome (24.6%), group 2 included patients who developed transient antiphospholipid antibodies with thromboembolic phenomena (43.7%), and group 3 included patients who developed transient antiphospholipid antibodies without thromboembolic events (31.7%). The most common preceding infection was viral (55.6%). In cases that developed thromboembolic events Human immunodeficiency and Hepatitis C viruses were the most frequently reported. Parvovirus B19 was the most common in cases that developed antibodies without thromboembolic events. Hematological manifestations and peripheral thrombosis were the most common clinical manifestations. Positive anticardiolipin antibodies were the most frequent antibodies reported, primarily coexisting IgG and IgM isotypes. Few patients in groups 1 and 2 had persistent antiphospholipid antibodies for more than 6 months. Outcome was variable with some cases reporting persistent antiphospholipid syndrome features and others achieving complete resolution of clinical events. Development of antiphospholipid antibodies with all traditional manifestations of antiphospholipid syndrome were observed after variety of infections, most frequently after chronic viral infections with Human immunodeficiency and Hepatitis C. The causal relationship between infection

Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population.

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Broadbelt, Kevin G; Barger, Melissa A; Paterson, David S; Holm, Ingrid A; Haas, Elisabeth A; Krous, Henry F; Kinney, Hannah C; Markianos, Kyriacos; Beggs, Alan H

2009-12-01

An important subset of the sudden infant death syndrome (SIDS) is associated with multiple serotonergic (5-HT) abnormalities in regions of the medulla oblongata. The mouse ortholog of the fifth Ewing variant gene (FEV) is critical for 5-HT neuronal development. A putatively rare intronic variant [IVS2-191_190insA, here referred to as c.128-(191_192)dupA] has been reported as a SIDS-associated mutation in an African-American population. We tested this association in an independent dataset: 137 autopsied cases (78 SIDS, 59 controls) and an additional 296 control DNA samples from Coriell Cell Repositories. In addition to the c.128-(191_192)dupA variant, we observed an associated single-base deletion [c.128-(301-306)delG] in a subset of the samples. Neither of the two FEV variants showed significant association with SIDS in either the African-American subgroup or the overall cohort. Although we found a significant association of c.128-(191_192)dupA with SIDS when San Diego Hispanic SIDS cases were compared with San Diego Hispanic controls plus Mexican controls (p = 0.04), this became nonsignificant after multiple testing correction. Among Coriell controls, 33 of 99 (33%) African-American and 0 of 197 (0%) of the remaining controls carry the polymorphism (c.128-(191_192)dupA). The polymorphism seems to be a common, likely nonpathogenic, variant in the African-American population.

[Risk factors for metabolic syndrome in a case control study in Temuco, Chile].

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Philco L, Patricia; Serón S, Pamela; Muñoz N, Sergio; Navia B, Pilar; Lanas Z, Fernando

2012-03-01

Metabolic syndrome is becoming an important public health problem in affluent societies. To identify factors associated to metabolic syndrome in a Southern Chilean city. Using a case control design, 200 participants, aged 35 to 70 years with at least three criteria for metabolic syndrome according to the National Cholesterol Education Program (NCEP_ATPIII) and 200 subjects with less than three criteria, were studied. Both groups were compared in terms of ethnic background, educational level, family history of diabetes and coronary artery disease, menopausal status, smoking, stress and depression, physical activity, changes in body mass index in the last five years and diet. Among subjects aged more than 54 years, among males and among overweight individuals, having a Mapuche origin was a risk factor with odds ratios (OR) of 7.2; 88 and 3.9 respectively. Among subjects aged more than 54 years, among women and among overweight individuals, a family history of diabetes was a risk factor with OR of 17.7; 3.2 and 3.9 respectively. Among subjects aged more than 54 years and among women a change in body mass index of more than three points was a risk factor with OR of 12.5 and 7.4, respectively. Depression also was a risk factor among subjects aged more than 54 years (OR 3.3). Regular consumption of wine was a protective factor among participants of more than 54 years, with an OR of 0.17. The risk factors for metabolic syndrome detected in this group of participants, were having a Mapuche origin, a family history of diabetes mellitus and depression. Wine consumption was associated with a lower risk.

Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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Hazza Issa

1999-01-01

Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

[Pseudo-Bartter syndrome--2 cases].

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Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

2010-01-01

Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

Birth characteristics of women with Marfan syndrome, obstetric and neonatal outcomes of their pregnancies-A nationwide cohort and case-control study.

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Kernell, Kristina; Sydsjö, Gunilla; Bladh, Marie; Josefsson, Ann

2017-08-01

The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265). The study population was followed until 2013. A total of 364 553 mother-firstborn-offspring pairs were analyzed. Sixty-one women with Marfan syndrome became mothers. Women with Marfan syndrome were also compared to 543 healthy controls. Women with Marfan syndrome were more often born preterm (pMarfan syndrome had no increased risk of giving birth by cesarean section (p=0.079). No increased neonatal risks in their children were found. Women with Marfan syndrome were less likely to give birth than those without (pMarfan syndrome were more likely to be born preterm, SGA and by cesarean section. These increased risks of preterm birth and SGA babies were not found in connection with their own first childbirth. Pregnancies with known fetal Marfan syndrome have to be carefully monitored. The results are important for obstetricians giving preconception counseling and treating women with Marfan syndrome. Further studies are needed to evaluate risks during pregnancy and long-term effects of pregnancy on the cardiovascular status of women with Marfan syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

[Gorlin-Goltz syndrome--a case report].

Science.gov (United States)

Debski, Tomasz; Jethon, Józef

2010-06-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

Rare case of nephrotic syndrome: Schimke syndrome.

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Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

2016-01-01

Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

Sudden cardiac death in athletes and its preventive strategies: review article

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Farzin Halabchi

2017-12-01

Full Text Available Sudden cardiac death in sport, although rare, but is a tragic event, attracting the media and public attention. Sport and exercise may act as a trigger for sudden cardiac death. Risk of sudden death in young athletes with cardiovascular disease is 2.5 times more frequent than non-athlete individuals. More than 90% of cases of sudden death occur during or immediately after training or competition. Incidence of sudden cardiac death in any population, including athletes, is related to multiple factors such as gender, age, race, nationality, diagnostic screening methods and preventive measures for sudden cardiac death. Otherwise, incidence rate of sudden cardiac death is linked to the used definition and method of diagnosis. Different cardiovascular disorders may result in death of young athletes and hypertrophic cardiomyopathy, congenital coronary anomalies, arrhythmogenic right ventricular dysplasia and aortic rupture are among the most common causes. Marfan syndrome, dilated cardiomyopathy, viral myocarditis, Wolff-Parkinson-White (WPW syndrome, congenital long QT syndrome, Brugada syndrome and commotio cordis are reported as other etiologies. In older athletes (more than 35 years, ischemic coronary heart disease is responsible for majority of the cases similar to the general population. Because the outcome of sudden cardiac arrest in sports is very poor except in few cases, proper national strategies are needed to diminish the burden of sudden death in young athletes. It seems that there are two main strategies to achieve this goal: A Primary prevention with use of purposeful pre-participation evaluation programs. This evaluation should focuss on the proper history and physical examination. Nevertheless, there is significant debate between American and European countries regarding the use of paraclinical investigations (especially ECG. American heart association does not recommend ECG as an essential part of evaluation. In contrast, European

Hermansky-Pudlak syndrome; a Case Report

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Abbas Bagheri

2010-01-01

Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

Increased risk of epilepsy in children with Tourette syndrome: A population-based case-control study.

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Wong, Lee Chin; Huang, Hui-Ling; Weng, Wen-Chin; Jong, Yuh-Jyh; Yin, Yun-Ju; Chen, Hong-An; Lee, Wang-Tso; Ho, Shinn-Ying

2016-01-01

The association between epilepsy and Tourette syndrome has rarely been investigated. In this retrospective cohort study, we analyzed a dataset of 1,000,000 randomly sampled individuals from the Taiwan National Health Insurance Research Database to determine the risk of epilepsy in children with Tourette syndrome. The study cohort consisted of 1062 patients with Tourette syndrome aged ≤ 18 years, and the control group consisted of three times the number of age- and sex-matched patients without Tourette syndrome, who were insurants, from the same database during the same period. The Tourette syndrome group had an 18.38-fold increased risk of epilepsy than the control group [hazard ratio=18.38, 95% confidence interval (CI)=8.26-40.92; PTourette syndrome group with comorbidities remained high (hazard ratio=16.27, 95% CI=6.26-18.46; PTourette syndrome is associated with a higher risk of epilepsy. A close follow-up of children with Tourette syndrome for the development of epilepsy is warranted. Copyright © 2015 Elsevier Ltd. All rights reserved.

Factors Associated with Fatal Outcomes Following Cholera-Like Syndrome in Far North Region of Cameroon: A Community-Based Survey.

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Djouma, Fabrice N; Ateudjieu, Jerome; Ram, Malathi; Debes, Amanda K; Sack, David A

2016-12-07

This study demonstrates that most cholera deaths in this region of Cameroon occur out of hospital. This is a region which is prone to cholera, and interventions are needed to improve access to emergency medical care, especially during cholera outbreaks. Cameroon has experienced 14 cholera epidemics during the last 20 years, and these have had high case fatality rates. This study attempted to assess the effect of delays in seeking care and the locations of care as possible risk factors for cholera mortality. The study used data from a community-based survey regarding the circumstances of 97 fatal cases and 197 control (nonfatal) cases following a cholera-like syndrome in villages with cholera-like diseases during cholera outbreaks in Cameroon during 2009-2011. Deaths occurred in one of four environments: the community, in a temporary community treatment center (TCTC), in transit to a treatment center, or in a hospital (39%, 32%, 5%, and 24%, respectively). Using a case-control analysis, factors associated with deaths included the nonuse of a cholera treatment center, receiving health care in a TCTC instead of a hospital, and greater than 4 hours delay between the onset of symptoms and the decision to go to a treatment center (odds ratios of 17.1 [confidence interval (CI): 7.0-41.8], 2.5 [CI: 1.2-5.0], and 2.2 [CI: 1.0-4.6], respectively). During cholera epidemics, a higher proportion of deaths are still occurring in communities. The nonuse and delays in deciding to go a treatment center, and treatment at TCTC rather than a hospital were risk factors for death among patients with cholera-like syndrome in Cameroon. Informing people on community management of cholera-like syndrome and improving care in all health facilities are needed to reduce deaths during cholera epidemics. © The American Society of Tropical Medicine and Hygiene.

Refeeding syndrome: treatment considerations based on collective analysis of literature case reports.

Science.gov (United States)

Boateng, Akwasi Afriyie; Sriram, Krishnan; Meguid, Michael M; Crook, Martin

2010-02-01

Refeeding syndrome (RFS) represents a group of clinical findings that occur in severely malnourished individuals undergoing nutritional support. Cardiac arrhythmias, multisystem organ dysfunction, and death are the most severe symptoms observed. As the cachectic body attempts to reverse its adaptation to the starved state in response to the nutritional load, symptoms result from fluid and electrolyte imbalances, with hypophosphatemia playing a central role. Because guidelines for feeding the malnourished patient at risk for refeeding syndrome is scarce, we have provided management recommendations based on the knowledge derived from a collection of reported English literature cases of the RFS. A MEDLINE search using keywords including "refeeding syndrome," "RFS," and "refeeding hypophosphatemia" was performed. References from initial cases were utilized for more literature on the subject. We have emphasized the continued importance of managing patients at risk for RFS, compared how management of the severely malnourished patients have evolved over time, and provided comprehensive clinical guidelines based on the sum of experience documented in the case reports for the purpose of supplementing the guidelines available. Based on our review, the most effective means of preventing or treating RFS were the following: recognizing the patients at risk; providing adequate electrolyte, vitamin, and micronutrient supplementation; careful fluid resuscitation; cautious and gradual energy restoration; and monitoring of critical laboratory indices. 2010 Elsevier Inc. All rights reserved.

[Two cases of Costello syndrome].

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Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu

2003-01-01

We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus.

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

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Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

2006-01-01

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

Apert Syndrome: A Case Report

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Masoud Gharib

2012-10-01

Full Text Available Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parent's quality of life.We report a case of Apert syndrome and his occupational therapy program.

Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report.

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Saad, Laura; Silva, Luiz Fal; Banzato, Claudio Em; Dantas, Clarissa R; Garcia, Celso

2010-07-20

Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a significant health issue for women, and the subgroup of patients with

[Prevalence of Down syndrome using certificates of live births and fetal deaths in México 2008-2011].

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Sierra Romero, María Del Carmen; Navarrete Hernández, Eduardo; Canún Serrano, Sonia; Reyes Pablo, Aldelmo E; Valdés Hernández, Javier

Down syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation with the clinical presentation of a series of well-defined characteristics. Advanced maternal age has been associated with DS. The databases of all the certificates of live births and fetal deaths in Mexico were combined. Codes based on the International Classification of Diseases 10 th Revision (ICD-10) in Chapter XVII "Congenital malformations, deformations and chromosomal abnormalities" were selected. A database of 8,250,375 births during the period 2008-2011 was constructed: 99.2% were live births with 0.8% of fetal deaths and 3,076 cases diagnosed with DS. The importance of this report is to initiate an epidemiological surveillance of newborn cases of DS nationwide and by state using census information systems available in the country since 2008. An increased risk has been observed for having a child with DS since the mother is ≥ 35 years, as has been reported in other studies. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Radiotherapy- and chemotherapy-induced myelodysplasia syndrome: a nationwide population-based nested case-control study.

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Sun, Li-Min; Lin, Cheng-Li; Lin, Ming-Chia; Liang, Ji-An; Kao, Chia-Hung

2015-05-01

This study explored which kinds of cancer are related to a higher incidence of subsequent myelodysplastic syndrome (MDS) after radiotherapy (RT) and chemotherapy (CT).We performed a nested case-control study by using data from the Taiwanese National Health Insurance (NHI) system. The case group included cancer patients who developed MDS. For the control group, 4 cancer patients without MDS were frequency-matched with each MDS case by age, sex, year of cancer diagnosis, and MDS index year. A multivariable logistic regression analysis was conducted, and odds ratios (ORs) and 95% confidence intervals (CIs) were estimated.Overall, cancer patients who received RT or CT exhibited secondary MDS more frequently than did those who did not (RT: OR = 1.53; 95% CI = 1.33-1.77; CT: OR = 1.51; 95% CI = 1.25-1.82). Analysis by cancer site showed that RT increased the risk of MDS for patients with stomach, colorectal, liver, breast, endometrial, prostate, and kidney cancers. By contrast, CT was more likely to increase the risk of MDS for patients with lung, endometrial, and cervical cancers. Further analysis revealed that RT and CT seemed to have a positive interaction. The major limitation of this study was the lack of certain essential data in the NHI Research Database, such as data regarding cancer stage and treatment dose details.This population-based nested case-control study determined that RT and CT predisposed patients in Taiwan to the development of MDS. This effect was more prominent when both modalities were used.

AN AUDIT OF THE SUDDEN-INFANT-DEATH-SYNDROME PREVENTION PROGRAM IN THE AUCKLAND REGION

NARCIS (Netherlands)

Obdeijn, M. C.; Tonkin, S.; Mitchell, E. A.

1995-01-01

Aim. An audit of the sudden infant death syndrome (SIDS) prevention programme in the Auckland region. Methods. 107 health professionals working in antenatal classes, postnatal wards, domiciliary midwifery and the Plunket Society were interviewed. Results. Maternal smoking and infant sleeping

A Case: Eight-and-A-Half Syndrome

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Cennet Nalan Kuş

2007-12-01

Full Text Available Scientific BACKGROUND: The combination of clinical one-and-a-half syndrome together with cranial nerve VII palsy is known to as eight-and-a-half syndrome. It localized the pathology to the pons. OBJECTIVE: To report a case having clinical and radiologic findings typical of eight-and-a-half syndrome. CASE: 65 year old man with hypertension presented with sudden onset of binocular diplopia left facial weakness. Magnetic resonance imaging demostrated a small lesion in the left paramedian pontine tegmentum. CONCLUSION: To our knowledge, this is the first report of a case of eight-and-a-half syndrome in Turkish literature

Still births, neonatal deaths and neonatal near miss cases attributable to severe obstetric complications: a prospective cohort study in two referral hospitals in Uganda.

Science.gov (United States)

Nakimuli, Annettee; Mbalinda, Scovia N; Nabirye, Rose C; Kakaire, Othman; Nakubulwa, Sarah; Osinde, Michael O; Kakande, Nelson; Kaye, Dan K

2015-04-17

Neonatal near miss cases occur more often than neonatal deaths and could enable a more comprehensive analysis of risk factors, short-term outcomes and prognostic factors in neonates born to mothers with severe obstetric complications. The objective was to assess the incidence, presentation and perinatal outcomes of severe obstetric morbidity in two referral hospitals in Central Uganda. A prospective cohort study was conducted between March 1, 2013 and February 28, 2014, in which all newborns from cases of severe pregnancy and childbirth complications were eligible for inclusion. The obstetric conditions included obstetric haemorrhage, hypertensive disorders, obstructed labour, chorioamnionitis and pregnancy-specific complications such as malaria, anemia and premature rupture of membranes. Still births, neonatal deaths and neonatal near miss cases (defined using criteria that employed clinical features, presence of organ-system dysfunction and management provided to the newborns were compiled). Stratified and multivariate logistic regression analysis was conducted to identify risk factors for perinatal death. Of the 3100 mothers, 192 (6.2%) had abortion complications. Of the remainder, there were 2142 (73.1%) deliveries, from whom the fetal outcomes were 257 (12.0%) still births, 369 (17.2%) neonatal deaths, 786 (36.7%) neonatal near misses and 730 (34.1%) were newborns with no or minimal life threatening complications. Of the 235 babies admitted to the neonatal intensive care unit (NICU), the main reasons for admission were prematurity for 64 (26.8%), birth asphyxia for 59 (23.7%), and grunting respiration for 26 (11.1%). Of the 235 babies, 38 (16.2%) died in the neonatal period, and of these, 16 died in the first 24 hours after admission. Ruptured uterus caused the highest case-specific mortality of 76.8%, and led to 16.9% of all newborn deaths. Across the four groups, there were significant differences in mean birth weight, p = 0.003. Antepartum hemorrhage

[Wernicke-Korsakoff syndrome secondary to cytomegalovirus encephalitis: A case report].

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Uribe, Luis Guillermo; Pérez, María Alejandra; Lara, Camilo Andrés; Rueda, Natalia; Hernández, Javier Augusto

2017-12-01

Cytomegalovirus (CMV) is one of the opportunistic microorganisms with the highest prevalence in immunocompromised patients. Reactivation has decreased after the introduction of highly active antiretroviral therapy (HAART). Encephalitis has been reported in the coinfection as one of the most frequent presentations.We present the case of a young adult patient with HIV infection and rapid neurological deterioration due to classic clinical symptoms and signs of the Wernicke-Korsakoff syndrome, with no risk factors for thiamine deficiency, with images by nuclear magnetic resonance typical of the syndrome, and identification of cytomegalovirus in cerebrospinal fluid. The specific treatment for CMV managed to control the symptoms with neurological sequelae in progression towards improvement.This is one of the few cases reported in the literature of Wernicke syndrome secondary to cytomegalovirus encephalitis.

Cell Death Biomarkers and Obstructive Sleep Apnea: Implications in the Acute Coronary Syndrome.

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Bauça, Josep Miquel; Yañez, Aina; Fueyo, Laura; de la Peña, Mónica; Pierola, Javier; Sánchez-de-la-Torre, Alicia; Mediano, Olga; Cabriada-Nuño, Valentín; Masdeu, María José; Teran-Santos, Joaquin; Duran-Cantolla, Joaquin; Masa, Juan Fernando; Abad, Jorge; Sanchez-de-la-Torre, Manuel; Barbé, Ferran; Barceló, Antònia

2017-05-01

Nucleosomes and cell-free double-stranded DNA (dsDNA) have been suggested as promising biomarkers in cell death-related diseases, such as acute coronary syndrome (ACS). Currently, the impact of obstructive sleep apnea (OSA) in patients with ACS is unclear. Our aim was to evaluate the relationship between OSA, dsDNA, and nucleosomes and to assess their potential implication in the development of ACS. Up to 549 patients were included in the study and divided into four groups (145 ACS; 290 ACS + OSA; 62 OSA; 52 controls). All patients underwent a sleep study, and serum concentrations of dsDNA and nucleosomes were measured. Nucleosome and dsDNA levels were higher in patients with OSA than in controls (nucleosomes: 1.47 ± 0.88 arbitary units [AU] vs. 1.00 ± 0.33 AU; p Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

SUDDEN NATURAL DEATHS IN MEDICOLEGAL CASES- AN AUTOPSY BASED STUDY

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C. S. Sreedevi

2017-01-01

Full Text Available BACKGROUND Death occurring in apparently healthy individual in a case of natural death may arise suspicion of foul play. In these circumstances these cases may be subjected to medicolegal autopsy. The disease condition may be unknown to the individual and the relatives. This study was done to review the exact cause of death in sudden unexpected deaths, and enabling or assisting the legal authorities in detection of crime, to prove or disprove the foul play. Body mass index is the most frequently used indicator of body fatness. An attempt is made to find out whether there is any significant relationship between BMI and the risk for sudden cardiac death. MATERIALS AND METHODS Data of 50 cases of sudden unexpected death brought for medicolegal autopsy at govt. T.D. medical college Alappuzha in the year 2010 were studied and information were collected from the postmortem records. Data was entered in the proforma. The histopathological examination findings of relevant cases were studied. Analysis was done using MS EXCEL and Chi-square test was used as the test of significance in the comparison between two categorical variables. RESULTS In 50 cases, male predominance was observed and 88% were males in which 50% of males died of atherosclerotic occlusive coronary artery disease and among females 33% died of myocardial infarction. While considering the systemic distribution of cause of death, the cardiovascular system was found to be most commonly affected, 33 cases (66% followed by respiratory system 7 cases (14%. In 4 (8% cases gastrointestinal system was affected. In Two cases (4% central nervous system was affected and others were generalized infection, which constituted 2 cases. Out of 33 cases observed in cardiovascular system the commonest cause being the atherosclerotic occlusive coronary artery diseases involving 27 cases (81.81% in which the predominant involvement was seen in left anterior descending artery 21 cases (77.77% followed by right

A rare complication of CMV infection in Crohn's disease - hemophagocytic syndrome: a case report.

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Pop, Corina Silvia; Becheanu, Gabriel; Calagiu, Dorina; Jantea, Petruţa-Violeta; Rădulescu, Dragoş Mihai; Pariza, George; Mavrodin, Carmen-Iuliana; Bold, Adriana; Costache, Adrian; Nemeş, Roxana Maria

2015-01-01

We report a case of CMV (cytomegalovirus) infection in a Crohn's disease patient, resulting in severe hemophagocytic syndrome and death. A 63-year-old man with a 10-year history of ileal and colonic Crohn's disease presented with general malaise, loss of appetite and weight loss over the last month. He was in clinical remission for two years, with maintenance therapy 5-Aminosalicylic acid (5-ASA)-derived Mesalamine. The patient had no prior immunomodulators or suppressive treatment. A colonoscopy was performed and we found appearance suggestive of active Crohn's disease, confirmed by histopathological examination. A diagnosis of an exacerbation of Crohn's disease was established. Although the specific treatment was initiated, patient's general condition degraded progressively and diarrheal stools appeared, followed by an episode of massive gastrointestinal bleeding - hematochezia. We performed a new colonoscopy and the pathological examination revealed Crohn's ileocolitis with superimposed CMV infection. Despite the initiation of Ganciclovir alongside with other intensive care measures, he increasingly deteriorated and chest X-ray confirmed multilobar pneumonia. The occurrence of rapidly progressing pancytopenia and evidence for disseminated intravascular coagulopathy as well as hyperferritinemia, raised the suspicion of hemophagocytic syndrome confirmed by bone marrow aspiration. Hence, CMV-associated hemophagocytic syndrome in the context of recent corticotherapy for Crohn's disease was established. There is enough evidence that supports the gravity of the CMV infection in the case of inflammatory bowel disease (IBD) patients, especially the ones on immunomodulator treatment. The hemophagocytic syndrome reactively occurs in patients with infections in cases of immunodeficiency, displaying a hematological aspect of multiple organ dysfunction syndrome.

Mills’ syndrome: a case report

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Fábio Henrique de Gobbi Porto

2009-11-01

Full Text Available The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical examination only. We can find this clinical presentation (Mills syndrome in cases of amyotrophic lateral sclerosis (ALS, predominant upper motor neuron amyotrophic lateral sclerosis (UMN-ALS and primary lateral sclerosis (PLS, besides its symptomatic (secondary forms. We describe a case (initial presentation and one year follow-up of progressive ascending hemiplegia with clinical isolated upper neuron signs and normal sensory examination, discussing its nosological status, electromyographic findings, differential diagnosis and prognosis.

A Case of Classic Raymond Syndrome

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Nicholas George Zaorsky

2012-01-01

Full Text Available Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1 the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2 the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

Boerhaave syndrome - case report

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Biljana Radovanovic Dinic

Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

Severe Renal Hemorrhage in a Pregnant Woman Complicated with Antiphospholipid Syndrome: A Case Report

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Shohei Kawaguchi

2011-01-01

Full Text Available Antiphospholipid syndrome is a systemic autoimmune disease with thrombotic tendency. Consensus guidelines for pregnancy with antiphospholipid syndrome recommend low-dose aspirin combined with unfractionated or low-molecular-weight heparin because antiphospholipid syndrome causes habitual abortion. We report a 36-year-old pregnant woman diagnosed with antiphospholipid syndrome receiving anticoagulation treatment. The patient developed left abdominal pain and gross hematuria at week 20 of pregnancy. An initial diagnosis of left ureteral calculus was made. Subsequently abdominal-pelvic computed tomography was required for diagnosis because of the appearance of severe contralateral pain. Computed tomography revealed serious renal hemorrhage, and ureteral stent placement and pain control by patient-controlled analgesia were required. After treatment, continuance of pregnancy was possible and vaginal delivery was performed safely. This is the first case report of serious renal hemorrhage in a pregnant woman with antiphospholipid syndrome receiving anticoagulation treatment and is an instructive case for urological and obstetrical practitioners.

Fatty liver hemorrhagic syndrome in the backyard chicken: a retrospective histopathologic case series.

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Trott, K A; Giannitti, F; Rimoldi, G; Hill, A; Woods, L; Barr, B; Anderson, M; Mete, A

2014-07-01

Fatty liver hemorrhagic syndrome, characterized by sudden death in overconditioned hens due to hepatic rupture and hemorrhage, is one of the leading noninfectious idiopathic causes of mortality in backyard chickens. Nutritional, genetic, environmental, and hormonal factors, or combinations of these, have been proposed yet not proven as the underlying cause. In an attempt to characterize the hepatic changes leading to the syndrome, this retrospective case study examined 76 backyard chickens that were diagnosed with fatty liver hemorrhagic syndrome between January 2007 and September 2012 and presented for necropsy to the diagnostic laboratory of the California Animal Health and Food Safety Laboratory System. A majority of the birds were female (99%), obese (97.5%), and in active lay (69.7%). Livers were examined histologically, and the degree of hepatocellular vacuolation (lipidosis), the reticular stromal architecture, the presence of collagenous connective tissue, and vascular wall changes were evaluated and graded using hematoxylin and eosin, Gomori's reticulin, oil red O, Masson's trichrome, and Verhoeff-Van Gieson stains. Interestingly, there was no correlation between lipidosis and reticulin grades; hepatocellular lipidosis was absent in 22% of the cases and mild in 26% of the cases. Additionally, there was evidence of repeated bouts of intraparenchymal hemorrhage before the acute "bleed-out" in 35.5% of the cases. These data are not supportive of the previously proposed causes and provide a framework for future studies to elucidate the pathogenesis of this condition. Furthermore, the data shown in this study support hemorrhagic liver syndrome as a more accurate name, as hepatic lipidosis is absent in a significant proportion of ruptured livers. © The Author(s) 2013.

Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome

DEFF Research Database (Denmark)

Kempny, Aleksander; Hjortshøj, Cristel Sørensen; Gu, Hong

2017-01-01

: In a multicenter approach, we identified adults with Eisenmenger syndrome under follow-up between 2000 and 2015. We examined survival and its association with clinical, electrocardiographic, echocardiographic, and laboratory parameters. RESULTS: We studied 1098 patients (median age, 34.4 years; range, 16.......1-84.4 years; 65.1% female; 31.9% with Down syndrome). The majority had a posttricuspid defect (n=643, 58.6%), followed by patients with a complex (n=315, 28.7%) and pretricuspid lesion (n=140, 12.7%). Over a median follow-up of 3.1 years (interquartile range, 1.4-5.9), allowing for 4361.6 patient......-years observation, 278 patients died and 6 underwent transplantation. Twelve parameters emerged as significant predictors of death on univariable analysis. On multivariable Cox regression analysis, only age (hazard ratio [HR], 1.41/10 years; 95% confidence interval [CI], 1.24-1.59; P

Causes of death in patients with Itai-itai disease suffering from severe chronic cadmium poisoning: a nested case-control analysis of a follow-up study in Japan.

Science.gov (United States)

Nishijo, Muneko; Nakagawa, Hideaki; Suwazono, Yasushi; Nogawa, Kazuhiro; Kido, Teruhiko

2017-07-13

To clarify the causes of deaths among patients with Itai-itai disease and severe cadmium (Cd) poisoning. Nested case-control analysis of a population-based cohort study. Database of patients with Itai-itai disease and residents of Cd-polluted areas, maintained by the Ministry of Environment, Japan. Subjects included 142 women with Itai-itai disease, 111 women with Cd-induced renal tubular dysfunction and 253 controls matched for sex, age and occupation. All subjects participated in a health impact survey between 1979 and 1984 and were followed until 30 November 2005. Adjusted HRs with 95% CIs for cause of death in women with Itai-itai disease and screened female cases with tubular dysfunction were compared with matched pair controls, using Cox's proportional hazard model. Vital statistics data were used to determine cause of death. Direct causes of death from autopsy records were used in 29 patients who died from Cd poisoning. The most common cause of death among patients with Itai-itai disease was pneumonia, with a significantly increased adjusted HR of 4.54 (95% CI 2.65 to 7.76). Renal diseases were the most common cause of death in renal tubular dysfunction cases, with an increased HR of 12.0 (95% CI 3.92 to 36.8). The adjusted HR for renal diseases was also significantly increased in patients with Itai-itai disease (19.49 (95% CI 6.43 to 59.09)), with a greater impact on mortality of patients with Itai-itai disease than screened cases. The HR for gastrointestinal (GI) diseases was significantly increased (13.79 (95% CI 3.87 to 49.10)) in patients, especially in the first 10 years (37.1 (4.81 to 286.0)). Among patients with Itai-itai disease, pneumonia and GI diseases contributed to increased mortality risk. Renal disease is also a significant mortality risk in patients with Itai-itai disease and women with renal tubular dysfunction. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No

Persistent Delirium in Chronic Critical Illness as a Prodrome Syndrome before Death.

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DeForest, Anna; Blinderman, Craig D

2017-05-01

Chronic critical illness (CCI) patients have poor functional outcomes, high risk of mortality, and significant sequelae, including delirium and cognitive dysfunction. The prognostic significance of persistent delirium in patients with CCI has not been well described. We report a case of a patient with CCI following major cardiac surgery who was hemodynamically stable following a long course in the cardiothoracic intensive care unit (CTICU), but had persistent and unremitting delirium. Despite both pharmacological and nonpharmacological approaches to improve his delirium, the patient ultimately continued to have symptoms of delirium and subsequently died in the CTICU. Efforts to reconsider the goals of care, given his family's understanding of his values, were met with resistance as his cardiothoracic surgeon believed that he had a reasonable chance of recovery since his organs were not in failure. This case description raises the question of whether we should consider persistent delirium as a prodrome syndrome before death in patients with CCI. Study and analysis of a case of a patient with CCI following major cardiothoracic surgery who was hemodynamically stable with persistent delirium. Further studies of the prevalence and outcomes of prolonged or persistent agitated delirium in patients with chronic critical illness are needed to provide prognostic information that can assist patients and families in receiving care that accords with their goals and values.

Long-term impact after fulminant Guillain-Barré syndrome, case report and literature review

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Rougé A

2016-11-01

Full Text Available Alain Rougé,1,2 Jérémie Lemarié,1,2 Sébastien Gibot,1,2 Pierre Edouard Bollaert1,2 1Medical Intensive Care Unit, Hôpital Central, University Hospital of Nancy, Nancy, France; 2INSERM UMRS-1116, Faculty of Medicine, University of Lorraine, Nancy, France Abstract: A 47-year-old man was admitted to the intensive care unit a few hours after ­presenting to emergency department with acute diplopia and dysphonia. Swallowing disorders and respiratory muscular weakness quickly required invasive ventilation. On day 3, the patient was in a “brain-death”-like state with deep coma and absent brainstem reflexes. Electroencephalogram ruled out brain death diagnosis as a paradoxical sleep trace was recorded. Cerebrospinal fluid analysis, electrophysiologic studies, and a recent history of diarrhea led to the diagnosis of Campylobacter jejuni-related fulminant Guillain-Barré syndrome (GBS mimicking brain death. The outcome was favorable after long Intensive Care Unit and inpatient rehabilitation stays, despite persistent disability at 9 years follow-up. This case and the associated literature review of 34 previously reported fulminant GBS patients emphasize the importance of electrophysiological investigations during clinical brain-death states with no definite cause. Fulminant GBS has a worse outcome than “standard” GBS with higher rates of severe disability (about 50%. Long-term physiotherapy and specific rehabilitation programs appear essential to improve recovery. Keywords: fulminant Guillain-Barré syndrome, brain death, electroencephalogram, C. jejuni, long-term follow 

Seventh-day syndrome: a catastrophic event after liver transplantation: case report.

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Pereira, M; Ferreira, I; Gandara, J; Ferreira, S; Lopes, V; Coelho, A; Vizcaino, R; Marinho, A; Daniel, J; Miranda, H P

2015-05-01

Seventh-day syndrome (7DS) is an early serious complication of liver transplantation, characterized by sudden failure of a previously normally functioning liver graft ∼1 week after the surgery. Although it is an uncommon event, it has major associated mortality. As its etiology is yet to be recognized, the only currently available treatment is retransplantation. We present 3 cases of orthotopic liver transplantation recipients who had an initial uneventful recovery after surgery followed by a dramatic rise of serum liver enzyme levels ∼7 days later and hepatic failure with subsequent graft loss and death despite high-dose immunosuppressive therapy. Histologic findings showed massive centrolobular hemorrhage and hepatocellular necrosis with reduced inflammation. It is essential to review and accumulate more clinical and laboratory information to better understand this syndrome and to better prevent and treat it. Copyright © 2015 Elsevier Inc. All rights reserved.

Sudden unexplained death in childhood. An audit of the quality of Autopsy reporting

LENUS (Irish Health Repository)

Treacy, A

2013-03-01

Cases of sudden unexplained death in childhood (SUDC) in Ireland in children aged >1year and <5 years were examined in order to assess the quality of autopsy reporting. All SUDC cases are notified to and documented by the National Sudden Infant Death Register (NSIDR) in Ireland along with all cases of sudden infant death syndrome (SIDS) referring to sudden infant deaths less than one year of age. The database of the NSIDR in Ireland was interrogated and cases of SIDS and SUDC were compared over a fifteen-year period (1995-2009). SIDS cases whose autopsies were conducted in the same hospital in the same year as the index SUDC case were used for comparison. The autopsy report for each case was examined and modified Rushton(MR) scores 1\\r\

In-hospital Death Prediction by Multilevel Logistic Regressin in Patients with Acute Coronary Syndromes

Czech Academy of Sciences Publication Activity Database

Reissigová, Jindra; Monhart, Z.; Zvárová, Jana; Hanzlíček, Petr; Grünfeldová, H.; Janský, P.; Vojáček, J.; Widimský, P.

2013-01-01

Roč. 9, č. 1 (2013), s. 11-17 ISSN 1801-5603 Institutional support: RVO:67985807 Keywords : multilevel logistic regression * acute coronary syndromes * risk factors * in-hospital death Subject RIV: IN - Informatics, Computer Science http://www.ejbi.org/img/ejbi/2013/1/Reissigova_en.pdf

Improving gross motor function and postural control with hippotherapy in children with Down syndrome: case reports.

Science.gov (United States)

Champagne, Danielle; Dugas, Claude

2010-11-01

The purpose of this case report is to describe the impact of an 11-week hippotherapy program on the gross motor functions of two children (respectively 28 and 37 months old) diagnosed with Down syndrome. Hippotherapy is a strategy that uses the horse's motion to stimulate and enhance muscle contraction and postural control. The children were assessed by the Gross Motor Function Measure (GMFM) and accelerometry. The results indicate that both children improved on many dimensions of the GMFM. Power spectral analysis of the acceleration signals showed improvement in postural control of either the head or trunk, because the children adopted two different adaptative strategies to perturbation induced by the moving horse.

Urinary flavonoid excretion and risk of acute coronary syndrome in a nested case-control study123

DEFF Research Database (Denmark)

Bredsdorff, Lea; Obel, Tina; Dethlefsen, Claus

2013-01-01

Background: Epidemiologic studies have suggested that a higher intake of flavonoids may be associated with lower risk of ischemic heart disease. However, the traditional estimation of flavonoid intake by using dietary assessment methods is affected by subjective measures. Objective: We examined...... whether the objective measurement of dietary flavonoids excreted in urine is associated with lower risk of acute coronary syndrome (ACS). Design: A case-control study was nested in the Danish Diet, Cancer and Health cohort study. Cases were identified in participants who had received a first-time ACS...... diagnosis in the Danish National Patient Registry after the time of enrollment into the Diet, Cancer and Health study. The excretion of 10 flavonoids, which represent 5 subclasses, was measured in spot urine samples by using liquid chromatography–mass spectrometry. Results: A total of 393 eligible cases...

Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis.

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Sergeev, Valentine; Perry, Frances; Roston, Thomas M; Sanatani, Shubhayan; Tibbits, Glen F; Claydon, Thomas W

2018-03-01

Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2. Functional characterization was undertaken due to the variable phenotype in carriers, the discrepancy with published cases, and the importance of identifying a cause for recurrent deaths in a single family. Studies of the mutated ion channel in in vitro heterologous expression systems revealed that the mutation has no detectable impact on membrane surface expression, biophysical gating properties such as activation, deactivation and inactivation, or the amplitude of the protective current conducted by hERG channels during early repolarization. These observations suggest that the p.Pro963Thr mutation is not a monogenic disease-causing LQTS mutation despite evidence of co-segregation in two siblings affected by SIDS. Our findings demonstrate some of the potential pitfalls in post-mortem molecular testing and the importance of functional testing of gene variants in determining disease-causation, especially where the impacts of cascade screening can affect multiple generations. Copyright © 2017 Elsevier B.V. All rights reserved.

Churg-Strauss syndrome following cessation of allergic desensitization vaccination: a case report

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Mokri Bahareh

2010-06-01

Full Text Available Abstract Introduction Churg-Strauss syndrome is a vasculitis of medium to small sized vessels. Diagnosis is mainly clinical with findings of asthma, eosinophilia, rhinosinusitis and signs of vasculitis in major organs. Case presentation We present a case of a 19-year-old Persian male who developed signs and symptoms of this syndrome related to hyposensitization treatments for allergy control. Conclusions No unifying etiology for the disease can be presented as it is found associated with environmental factors, medications, infections and is even considered a variant of asthma with predisposition to vasculitic involvement. Therefore, it is important to recognize this disease and be aware of underdiagnosis because of emphasis on pathologic evidence. Here, we present a case of allergic desensitization causing Churg-Strauss syndrome in the absence of other known factors.

Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable to an age- and gender-matched control population: case-control study with expert pathology review

NARCIS (Netherlands)

Vleugels, Jasper L. A.; Sahin, Husna; Hazewinkel, Yark; Koens, Lianne; van den Berg, Jose G.; van Leerdam, Monique E.; Dekker, Evelien

2017-01-01

Carcinogenesis in Lynch syndrome involves fast progression of adenomas to colorectal cancer (CRC) due to microsatellite instability. The role of sessile serrated lesions (SSLs) and the serrated neoplasia pathway in these patients is unknown. The aim of this matched case-control study was to compare

Four therapeutic cases of RS3PE syndrome

International Nuclear Information System (INIS)

Nakajima, Naoya; Fukuda, Yukiko; Yang, Kwang-Seok; Aiba, Miyoji; Tsuda, Hiroshi

2007-01-01

RS3PE syndrome (Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome) is one of the disorders which present as polyarthritis. It is important to be aware of RS3PE syndrome when encountering elderly patients with polyarthritis who are negative for rheumatoid factor. We report 4 cases of RS3PE syndrome. All cases shared common clinical findings, such as acute onset, symmetrical polyarthritis, pitting edema of the hands and feet, and being negative for rheumatoid factor in serum. Treatment with corticosteroid was very effective in all cases. However, two patients showed a deteriorated clinical condition during the tapering of corticosteroid. Corticosteroid should be tapered off cautiously in patients with RS3PE syndrome. (author)

A case of Cronkhite-Canada syndrome

International Nuclear Information System (INIS)

Hirohama, Shigeo; Soedjaro; Machida, Takashi

1985-01-01

A 75-year-old woman with Cronkhite-Canada syndrome underwent computed tomography (CT) and ultrasonography (US). CT and US provided useful information on pathologic conditions, including edema of the digestive mucosa, which characterize this syndrome. Clinical analysis of this syndrome in 77 Japanese cases reported in the literature was presented. (Namekawa, K.)

Analysis of preventability of hypertensive disorder in pregnancy-related maternal death using the nationwide registration system of maternal deaths in Japan.

Science.gov (United States)

Katsuragi, Shinji; Tanaka, Hiroaki; Hasegawa, Junichi; Nakamura, Masamitsu; Kanayama, Naohiro; Nakata, Masahiko; Murakoshi, Takeshi; Yoshimatsu, Jun; Osato, Kazuhiro; Tanaka, Kayo; Sekizawa, Akihiko; Ishiwata, Isamu; Ikeda, Tomoaki

2018-04-26

Hypertensive disorder of pregnancy (HDP) is a major cause of maternal death. The goal of this study was to investigate factors associated with maternal death due to HDP. HDP-related maternal deaths in Japan reported to the Committee of the Ministry of Health, Labor and Welfare from 2010 to 2015 were examined. Out of 47 cases of HDP, 30 were identified as the major cause of maternal death. The median maternal age was 34 years (range 24-45) and the mortality in women aged ≥40 years was seven times higher that than in women aged deaths in Japan. Mothers aged ≥40 years are most at risk for HDP-related maternal death. Major concerns for preventabilities were late hospitalization, maternal transportation, and termination of pregnancy for term or near-term HDP. Regular vital checks and prompt lowering of BP were lacked during labor in most cases. HELLP syndrome should be managed at a general hospital with sufficient medical resources.

Is It Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS

Science.gov (United States)

Gollenberg, Audra; Fendley, Kim

2018-01-01

Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States, and in Virginia. We sought to gauge the perceptions among community-identified stakeholders regarding community resource needs to reduce SIDS. Snowball sampling identified important community stakeholders to be interviewed as key informants. A…

PGE1 nebulisation during caesarean section for Eisenmenger's syndrome: a case report

Directory of Open Access Journals (Sweden)

Siddiqui Shahla

2008-05-01

Full Text Available Abstract Introduction Eisenmenger's syndrome in pregnancy can lead to death in 50% to 65% of parturients. Expensive invasive monitoring and medication have improved management and outcomes. Cheaper alternatives for the management of high-risk patients who present with no prenatal care are still not available. Case presentation We describe the obstetric anaesthesia management of a 34-year-old, 34-weeks pregnant woman who presented with a recent diagnosis of severe Eisenmenger's syndrome. A combined spinal epidural anaesthesia was used together with invasive cardiac monitoring as well as PGE1 nebulisation after delivery of the baby. This helped achieve a reduction of shunt, improvement of hypoxia and reduction of pulmonary pressures. Conclusion We found this to be a cheaper and safe alternative in the management of such patients who present with no adequate prior management.

[Jerusalem syndrome - a case report].

Science.gov (United States)

Poleszczyk, Anna; Swiecicki, Łukasz

2013-01-01

The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

Anesthesia in pregnant women with HELLP syndrome: case report

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Eduardo Barbin Zuccolotto

Full Text Available Abstract Background and objectives: HELLP syndrome, characterized by hemolysis, high levels of liver enzyme, and low platelet count, is an advanced clinical stage of pre-eclampsia, progressing to high maternal (24% and perinatal (up 40% mortality, despite childbirth care in a timely manner. The goal is to describe the anesthetic management of a case with indication to emergency cesarean. Case report: Female patient, 36 years old, gestational age of 24 weeks, with hypertensive crisis (BP 180/100 mmHg and severe headache, was admitted to the operating room for a cesarean section after diagnosis of HELLP syndrome. Indicated for general anesthesia, we opted for total intravenous with intubation after rapid sequence induction with propofol and remifentanil in continuous target-controlled infusion, and rocuronium at a dose of 1.2 mg/kg. Maintenance was achieved with propofol and remifentanil. The surgical procedure was uneventful, the child was born with APGAR 1/5 and transferred to the NICU. At the end of surgery, the patient was extubated in the operating room and taken to the ICU. The postoperative period was uneventful with no changes worthy of note and the patient was discharged on the sixth postoperative day. Conclusion: When general anesthesia is the choice in parturient with HELLP syndrome, tracheal intubation with rapid sequence induction due to possible difficult airway, as well as the use of drugs to control the hemodynamic response can minimize the complications associated with the procedure, as occurred in this case.

Magnetic resonance imaging correlates of bee sting induced multiple organ dysfunction syndrome: A case report.

Science.gov (United States)

Das, Sushant K; Zeng, Li-Chuan; Li, Bing; Niu, Xiang-Ke; Wang, Jing-Liang; Bhetuwal, Anup; Yang, Han-Feng

2014-09-28

Occasionally systemic complications with high risk of death, such as multiple organ dysfunction syndrome (MODS), can occur following multiple bee stings. This case study reports a patient who presented with MODS, i.e., acute kidney injury, hepatic and cardiac dysfunction, after multiple bee stings. The standard clinical findings were then correlated with magnetic resonance imaging (MRI) findings, which demonstrates that MRI may be utilized as a simpler tool to use than other multiple diagnostics.

Gorlin syndrome: A case report

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Patil K

2005-01-01

Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

Sudden death due to inhalant abuse in youth: Case report

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Ramazan Akcan

2010-06-01

Full Text Available Intentional inhalation or abuse of volatile substances is a common public health problem all over the world. As these substances generate euphoria frequency of use among adolescents and young adults is increasing steadily. In cases using inhalants to achieve a euphoric state -without knowing possible consequences- sudden death may occurdue to acute cardio-pulmonary dysfunction.Here we present a case of sudden death of a nineteen-year-old female due to inhalation of volatile from butane containing lighter gas tube, with the findings of autopsy and death scene investigation.In the context of this case; it was aimed to draw attention to the risk of sudden death and steady increase of frequencyof volatile substance abuse among adolescents and young adults due to various psycho-social factors.

Neuroleptic malignant syndrome (a case report.

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Patkar A

1991-07-01

Full Text Available An adult schizophrenic patient developed neuroleptic malignant syndrome following treatment with parenteral haloperidol. An early recognition of the syndrome, immediate discontinuation of the offending agent and prompt treatment with bromocriptine and lorazepam produced a good recovery. The various features of the case are discussed in view of the potential lethality of the syndrome.

Esthesioneuroblastoma in Maffucci's syndrome

International Nuclear Information System (INIS)

Kurian, Sobha; Crowell, Edward B.; Ertan, Esmer; Rassekh, Christopher; Ducatman, Barbara

2004-01-01

Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

Mills’ syndrome: case report

OpenAIRE

Henrique de Gobbi Porto, Fábio; Orsini, Marco; Antônio Araújo Leite, Marco; Moreira dos Santos, José; Pulier, Soraia; Mello, Mariana; Nascimento, Osvaldo J.M.

2009-01-01

The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical ...

Meckel Gruber Syndrome: A Case Report

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Celal Devecioglu

2004-01-01

Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

Lemierre syndrome: two cases and a review.

Science.gov (United States)

Syed, Mohammed Iqbal; Baring, David; Addidle, Michael; Murray, Craig; Adams, Calum

2007-09-01

Lemierre syndrome is usually caused by an acute oropharyngeal infection in previously healthy young adults, resulting in thrombophlebitis of the internal jugular vein, leading to metastatic septic embolization and bacteraemia. The usual organism is Fusobacterium necrophorum. Lemierre syndrome, not so long ago labeled as the "forgotten disease," is on the rise. Today with increasing antibiotic-resistant organisms, and decreasing awareness of the syndrome, subsequent re-emergence of this "forgotten disease" is becoming more common in clinical settings. Lemierre syndrome has significant morbidity. Cranial nerve complications associated with the condition have been increasingly diagnosed in the last few years. Looking back at literature on Lemierre syndrome, there have been review articles in medical and microbiology journals but rarely in otolaryngology journals. By presenting our cases we demonstrate the diverse presentations and severity of the illness. A review of the literature and a case report on two cases seen in our institution in the last year are presented. Each of these had varied presentations and neurologic complications-one developed 9th to 12th cranial nerve palsies and Horner syndrome, which have not been described in previous literature, and the other developed polyneuropathy and a frontal lobe infarct among other multisystem complications. Diagnosis of Lemierre syndrome is not always straightforward as clinical features are variable and blood cultures are often negative. Awareness of the syndrome and a high degree of suspicion are needed.

Case report of sudden death in a child with Williams syndrome ...

African Journals Online (AJOL)

A two year old child, confirmed with Williams syndrome (WS) ... and no relevant cardiac history such as chest pain or episodes ... brain, abdominal and pelvic organ blocks. .... a fully functional operating theatre complex presents a number.

A CASE OF METABOLIC SYNDROME

OpenAIRE

Khoo Ee Ming; Rabia Khatoon

2006-01-01

This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.

The cost of inpatient death associated with acute coronary syndrome

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Page II RL

2016-02-01

Full Text Available Robert L Page II,1 Vahram Ghushchyan,2 Jill Van Den Bos,3 Travis J Gray,3 Greta L Hoetzer,4 Durgesh Bhandary,4 Kavita V Nair1 1Department of Clinical Pharmacy, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO, 2College of Business and Economics, American University of Armenia, Yerevan, Armenia; 3Milliman, Inc, Denver, CO, 4AstraZeneca, US Medical Affairs, Wilmington, DE, USA Background: No studies have addressed the cost of inpatient mortality during an acute coronary syndrome (ACS admission. Objective: Compare ACS-related length of stay (LOS, total admission cost, and total admission cost by day of discharge/death for patients who died during an inpatient admission with a matched cohort discharged alive following an ACS-related inpatient stay. Methods: Medical and pharmacy claims (2009–2012 were used to identify admissions with a primary diagnosis of ACS from patients with at least 6 months of continuous enrollment prior to an ACS admission. Patients who died during their ACS admission (deceased cohort were matched (one-to-one to those who survived (survived cohort on age, sex, year of admission, Chronic Condition Index score, and prior revascularization. Mean LOS, total admission cost, and total admission cost by the day of discharge/death for the deceased cohort were compared with the survived cohort. A generalized linear model with log transformation was used to estimate the differences in the total expected incremental cost of an ACS admission and by the day of discharge/death between cohorts. A negative binomial model was used to estimate differences in the LOS between the two cohorts. Costs were inflated to 2013 dollars. Results: A total of 1,320 ACS claims from patients who died (n=1,320 were identified and matched to 1,319 claims from the survived patients (n=1,319. The majority were men (68% and mean age was 56.7±6.4 years. The LOS per claim for the deceased cohort was

Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).

Science.gov (United States)

Drivdal, Monica; Trydal, Torleif; Hagve, Tor-Arne; Bergstad, Ingunn; Aagenaes, Oystein

2006-04-01

To investigate the prognosis of liver disease in Aagenaes syndrome (lymphoedema cholestasis syndrome 1 (LCS1)), which is an autosomal recessive inherited syndrome consisting of neonatal cholestasis with intermittent cholestatic episodes in childhood into adulthood and development of lymphoedema. Forty Norwegian patients are known to have this condition, 25 of whom are alive. A clinical description of the liver disease is supplied with a case-control study. In this paper we review the course of the liver disease in the Norwegian cohort of patients and present results from a case-control study in the patients above 10 years of age. The case-control study was performed on 15 patients without clinical cholestasis (itching and sometimes jaundice) at the time of the study. An evaluation of 11 patients above 15 years of age without chronic biochemical cholestasis (increased alkaline phosphatase (ALP), gamma-glutamyl transferase (GGT) and/or serum bile acids) was also carried out. For each patient one randomly identified control person was included (15 in one study, 11 in the other). Cirrhosis with either transplantation or death in infancy or early childhood occurred in six patients; slowly developing cirrhosis occurred in three patients. Two patients may be in the process of developing cirrhosis. Significantly increased ALP and GGT levels were found in patients with normal liver biochemistry in the preceding years when compared with the case control group. Additionally, albumin was found to be lower in older patients. Compared with that for other types of hereditary neonatal cholestasis, patients with LCS1 have a relatively good prognosis. More than 50% can expect a normal life span.

Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for Long QT Syndrome

NARCIS (Netherlands)

Hendriks, Karin S. W. H.; Grosfeld, F. J. M.; van Tintelen, J. P.; van Langen, I. M.; Wilde, A. A. M.; van den Bout, J.; ten Kroode, H. F. J.

2005-01-01

Can a parent adjust to the idea that its child is at risk for a sudden death? This question is raised by a diagnostic procedure in which children were tested for an inherited Long QT Syndrome (LQTS). This potentially life-threatening but treatable cardiac arrhythmia syndrome may cause sudden death,

Can parents adjust to the idea that their child is at risk for a sudden death? : Psychological impact of risk for Long QT Syndrome

NARCIS (Netherlands)

Hendriks, Karin S. W. H.; Grosfeld, FJM; van Tintelen, JP; van Langen, IM; Wilde, AAM; van den Bout, J; ten Kroode, HFJ

2005-01-01

Can a parent adjust to the idea that its child is at risk for a sudden death? This question is raised by a diagnostic procedure in which children were tested for an inherited Long QT Syndrome (LQTS). This potentially life-threatening but treatable cardiac arrhythmia syndrome may cause sudden death,

Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome.

Science.gov (United States)

Mitsumoto, H; Schwartzman, M J; Estes, M L; Chou, S M; La Franchise, E F; De Camilli, P; Solimena, M

1991-04-01

Two women with typical stiff-man syndrome (SMS) developed increasingly frequent attacks of muscle spasms with severe paroxysmal autonomic dysfunctions such as transient hyperpyrexia, diaphoresis, tachypnea, tachycardia, pupillary dilation, and arterial hypertension. Autoantibodies to GABA-ergic neurons were identified in the serum of both patients and in the cerebrospinal fluid of one. Both died suddenly and unexpectedly. General autopsy did not reveal the cause of death. Neuropathological studies revealed perivascular gliosis in the spinal cord and brain stem of one patient and lymphocytic perivascular infiltration in the spinal cord, brain stem, and basal ganglia of the other. The occurrence of a chronic inflammatory reaction in one of the two patients supports the idea that an autoimmune disease against GABA-ergic neurons may be involved in SMS. A review of the literature indicates that functional impairment in SMS is severe and prognosis is unpredictable because of the potential for sudden and unexpected death. Both muscular abnormalities and autonomic dysfunctions may result from autoimmunity directed against GABA-ergic neurons.

Confounding factors in diagnosing brain death: a case report

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Login Ivan S

2002-06-01

Full Text Available Abstract Background Brain death is strictly defined medically and legally. This diagnosis depends on three cardinal neurological features: coma, absent brainstem reflexes, and apnea. The diagnosis can only be made, however, in the absence of intoxication, hypothermia, or certain medical illnesses. Case presentation A patient with severe hypoxic-ischemic brain injury met the three cardinal neurological features of brain death but concurrent profound hypothyroidism precluded the diagnosis. Our clinical and ethical decisions were further challenged by another facet of this complex case. Although her brain damage indicated a hopeless prognosis, we could not discontinue care based on futility because the only known surrogate was mentally retarded and unable to participate in medical planning. Conclusion The presence of certain medical conditions prohibits a diagnosis of brain death, which is a medicolegal diagnosis of death, not a prediction or forecast of future outcome. While prognostication is important in deciding to withdraw care, it is not a component in diagnosing brain death.

Bartter's syndrome: A case report of nephrocalcinosis

OpenAIRE

KOŞAN, Celalettin

2014-01-01

Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically in patients with Barter's syndrome, this is still generally unrecognized. We reported a case of Barter's syndrome with nephrocalcinosis and discussed clinical significance of nephrocalcinosis in this syndrome.

Nicolau syndrome following intramuscular benzathine penicillin

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De Sousa R

2008-01-01

Full Text Available Nicolau syndrome (NS is a rare complication of an intramuscular injection characterized by severe pain, skin discoloration, and varying levels of tissue necrosis. The case outcomes vary from atrophic ulcers and severe pain to sepsis and limb amputation. We describe a case of a seven-year-old boy with diagnosis of NS after intramuscular benzathine penicillin injection to the ventrolateral aspect of the left thigh. Characteristic violaceous discoloration of skin and immediate injection site pain identified it as a case of NS. The case was complicated by rapid progression of compartment syndrome of the lower limb, proceeding to acute renal failure and death. Associated compartment syndrome can be postulated as a poor prognostic factor for NS.

Fatores de risco para óbitos neonatais no Recife: um estudo caso-controle Risk factors for neonatal death in Recife: a case-control study

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Sílvia W. Sarinho

2001-08-01

Full Text Available OBJETIVOS: a mortalidade neonatal é o componente mais importante da mortalidade infantil na cidade do Recife. Este estudo teve como objetivo determinar os principais fatores de risco para morte neonatal no município do Recife em 1995. MÉTODOS: o desenho do estudo foi do tipo caso-controle. Realizou-se a validação dos bancos de dados do Sistema de Informação em Mortalidade e Sistema de Informação Nascido Vivo, para mães residentes no Recife, no ano de 1995. Obteve-se, após técnica do linkage entre os dois bancos de dados, amostra com 456 casos e 2.280 controles. Como medida de risco utilizou-se Odds Ratio, com intervalo de confiança de 95% e para a diferença de proporção, o teste qui quadrado. Utilizou-se na análise multivariada a técnica da regressão logística. RESULTADOS: verificou-se que 358 (79,7% das crianças que evoluíram para óbito foram de baixo peso ao nascer, com risco de morte 46 vezes superior (IC=33,8-59,0 P 2.500g. Por ordem decrescente de valores da medida de associação de morte neonatal com as variáveis estudadas através da análise multivariada, os principais fatores de risco foram peso ao nascer OBJECTIVE: Neonatal mortality is the main cause of infant mortality in the city of Recife. The objective of the present study was to determine the major risk factors for neonatal death in Recife in 1995. METHODS: This is a case control study. Information was obtained from the mortality and live birth databases after validation of the data set, between January and December 1995. A sample of 456 cases and 2,280 controls was obtained after using the linkage technique between the two data sets. The difference in proportion was analyzed by the chi square test. The odds ratio was calculated as a risk measure, with a 95% confidence interval. The logistic regression technique was used to adjust potential confounding factors. RESULTS: 212 deaths (46.6% occurred in the first 24 hours of life. We found that 358 (79.7% of

[Cotard's syndrome: Case report and a brief review of literature].

Science.gov (United States)

Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

2016-01-01

The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

Ambulatory (24 h) blood pressure and arterial stiffness measurement in Marfan syndrome patients: a case control feasibility and pilot study.

Science.gov (United States)

Hillebrand, Matthias; Nouri, Ghazaleh; Hametner, Bernhard; Parragh, Stephanie; Köster, Jelena; Mortensen, Kai; Schwarz, Achim; von Kodolitsch, Yskert; Wassertheurer, Siegfried

2016-05-06

The aim of this work is the investigation of measures of ambulatory brachial and aortic blood pressure and indices of arterial stiffness and aortic wave reflection in Marfan patients. A case-control study was conducted including patients with diagnosed Marfan syndrome following Ghent2 nosology and healthy controls matched for sex, age and daytime brachial systolic blood pressure. For each subject a 24 h ambulatory blood pressure and 24 h pulse wave analysis measurement was performed. All parameters showed a circadian pattern whereby pressure dipping was more pronounced in Marfan patients. During daytime only Marfan patients with aortic root surgery showed increased pulse wave velocity. In contrast, various nighttime measurements, wave reflection determinants and circadian patterns showed a significant difference. The findings of our study provide evidence that ambulatory measurement of arterial stiffness parameters is feasible and that these determinants are significantly different in Marfan syndrome patients compared to controls in particular at nighttime. Further investigation is therefore indicated.

Two cases of Cantrell's syndrome

International Nuclear Information System (INIS)

Yu, Yun Jeong; Yeon, Kyung Mo

1982-01-01

Congenital absence of the lower sternum, defect of the abdominal wall, defects of the anterior diaphragm, pericardial defects and cardiac anomalies had been described as a syndrome by Cantrell et al. Developing mechanism of the syndrome was embryologically defined. These defects arise apparently from combined anomalies of developing of the dorsal mesoderm. The authors present two cases of Cantrell's syndrome developed in one day old and eight months old female patient in which angiocardiography was done at the Department of Radiology, Seoul National University Hospital

Cancer deaths and cases attributable to lifestyle factors and infections in China, 2013.

Science.gov (United States)

Islami, F; Chen, W; Yu, X Q; Lortet-Tieulent, J; Zheng, R; Flanders, W D; Xia, C; Thun, M J; Gapstur, S M; Ezzati, M; Jemal, A

2017-10-01

The burden of cancer in China is high, and it is expected to further increase. Information on cancers attributable to potentially modifiable risk factors is essential in planning preventive measures against cancer. We estimated the number and proportion of cancer deaths and cases attributable to ever-smoking, second-hand smoking, alcohol drinking, low fruit/vegetable intake, excess body weight, physical inactivity, and infections in China, using contemporary data from nationally representative surveys and cancer registries. The number of cancer deaths and cases in 2013 were obtained from the National Central Cancer Registry of China and data on most exposures were obtained from the China National Nutrition and Health Survey 2002 or 2006 and Global Adult Tobacco Smoking 2010. We used a bootstrap simulation method to calculate the number and proportion of cancer deaths and cases attributable to risk factors and their corresponding 95% confidence intervals (CIs), allowing for uncertainty in data. Approximately 718 000 (95% CI 702 100-732 200) cancer deaths in men and 283 100 (278 800-288 800) cancer deaths in women were attributable to the studied risk factors, accounting for 52% of all cancer deaths in men and 35% in women. The numbers for incident cancer cases were 952 500 (95% CI 934 200-971 400) in men and 442 700 (437 200-447 900) in women, accounting for 47% of all incident cases in men and 28% in women. The greatest proportions of cancer deaths attributable to risk factors were for smoking (26%), HBV infection (12%), and low fruit/vegetable intake (7%) in men and HBV infection (7%), low fruit/vegetable intake (6%), and second-hand smoking (5%) in women. Effective public health interventions to eliminate or reduce exposure from these risk factors, notably tobacco control and vaccinations against carcinogenic infections, can have considerable impact on reducing the cancer burden in China. © The Author 2017. Published by Oxford University

Post partum posteriort reversibeltencefalopati-syndrom

DEFF Research Database (Denmark)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder

2015-01-01

and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood......Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis...

Mesothelioma of the testis and nephrotic syndrome: a case report

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Bacchetta Justine

2009-06-01

Full Text Available Abstract Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.

Benedikt's Syndrome: A Rare Case Report

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Aslı Aksoy Gundogdu

2017-08-01

Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

The control and execution of programmed cell death

International Nuclear Information System (INIS)

Begum, R.; Pathak, N.; Hasnain, S.E.; Sah, N.K.; Athar, M.

1999-01-01

Apoptosis or programmed cell death is a highly conserved genetically controlled response of metazoan cells to commit suicide. Non apoptotic programmed cell death seems to operate in single celled eukaryotes implying that evolution of PCD has preceded the evolution of multicellularity. PCD plays a crucial role in the regulation of cellular and tissue homeostasis and any aberrations in apoptosis leads to several diseases including cancer, neurodegenerative disorders and AIDS. The mechanisms by which apoptosis is controlled are varied. In some cells, members of bcl-2 family or p53 are crucial for regulating the apoptosis programme, whereas in other cells Fas ligand is more important. bcl-2 family members have a prime role in the regulation of cell death at all stages including development, whereas cell death during development is independent of p53. bcl-2 family members being localized on the outer mitochondrial membrane, control the mitochondrial homeostasis and cytochrome c redistribution and thereby regulate the cell death process. p53 promotes DNA damage mediated cell death after growth arrest and failed DNA repair. Caspases play a key role in the execution of cell death by mediating highly specific cleavages of crucial cellular proteins collectively manifesting the apoptotic phenotype. Protein inhibitors like crm A, p35 and IAPs could prevent/control apoptosis induced by a broad array of cell death stimuli by several mechanisms specially interfering in caspase activation or caspase activity. Among endonucleases, caspase activated DNase (CAD) plays a crucial role in DNA fragmentation, a biochemical hallmark of apoptosis. As regulation of cell death seems to be as complex as regulation of cell proliferation, multiple kinase mediated regulatory mechanisms might control the apoptotic process. Thus, in spite of intensive research over the past few years, the field of apoptosis still remains fertile to unravel among others, the molecular mechanisms of cytochrome c

The control and execution of programmed cell death

Energy Technology Data Exchange (ETDEWEB)

Begum, R.; Pathak, N.; Hasnain, S.E.; Sah, N.K. [National Inst. of Immunology, New Delhi (India). Eukaryotic Gene Expression Lab.; Taneja, T.K.; Mohan, M. [National Inst. of Immunology, New Delhi (India). Eukaryotic Gene Expression Lab.]|[Dept. of Medical Elementology and Toxicology, New Delhi (India); Athar, M. [Dept. of Medical Elementology and Toxicology, New Delhi (India)

1999-07-01

Apoptosis or programmed cell death is a highly conserved genetically controlled response of metazoan cells to commit suicide. Non apoptotic programmed cell death seems to operate in single celled eukaryotes implying that evolution of PCD has preceded the evolution of multicellularity. PCD plays a crucial role in the regulation of cellular and tissue homeostasis and any aberrations in apoptosis leads to several diseases including cancer, neurodegenerative disorders and AIDS. The mechanisms by which apoptosis is controlled are varied. In some cells, members of bcl-2 family or p53 are crucial for regulating the apoptosis programme, whereas in other cells Fas ligand is more important. bcl-2 family members have a prime role in the regulation of cell death at all stages including development, whereas cell death during development is independent of p53. bcl-2 family members being localized on the outer mitochondrial membrane, control the mitochondrial homeostasis and cytochrome c redistribution and thereby regulate the cell death process. p53 promotes DNA damage mediated cell death after growth arrest and failed DNA repair. Caspases play a key role in the execution of cell death by mediating highly specific cleavages of crucial cellular proteins collectivley manifesting the apoptotic phenotype. Protein inhibitors like crm A, p35 and IAPs could prevent/control apoptosis induced by a broad array of cell death stimuli by several mechanisms specially interfering in caspase activation or caspase activity. Among endonucleases, caspase activated DNase (CAD) plays a crucial role in DNA fragmentation, a biochemical hallmark of apoptosis. As regulation of cell death seems to be as complex as regulation of cell proliferation, multiple kinase mediated regulatory mechanisms might control the apoptotic process. Thus, in spite of intensive research over the past few years, the field of apoptosis still remains fertile to unravel among others, the molecular mechanisms of cytochrome c

Staphylococcal scalded skin syndrome in a premature newborn caused by methicillin-resistant Staphylococcus aureus: case report

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Andreas Hörner

Full Text Available CONTEXT: Staphylococcal scalded skin syndrome is an exfoliative skin disease. Reports of this syndrome in newborns caused by methicillin-resistant Staphylococcus aureus are rare but, when present, rapid diagnosis and treatment is required in order to decrease morbidity and mortality. CASE REPORT: A premature newly born girl weighing 1,520 g, born with a gestational age of 29 weeks and 4 days, developed staphylococcal scalded skin syndrome on the fifth day of life. Cultures on blood samples collected on the first and fourth days were negative, but Pseudomonas aeruginosa and Enterococcus sp. (vancomycin-sensitive developed in blood cultures performed on the day of death (seventh day, and Pseudomonas aeruginosa and Serratia marcescens were identified in cultures on nasopharyngeal, buttock and abdominal secretions. In addition to these two Gram-negative bacilli, methicillin-resistant Staphylococcus aureus was isolated in a culture on the umbilical stump (seventh day. The diagnosis of staphylococcal scalded skin syndrome was based on clinical criteria.

[Temporomandibular disorders and Ehlers-Danlos syndrome, hypermobility type: A case-control study].

Science.gov (United States)

Diep, D; Fau, V; Wdowik, S; Bienvenu, B; Bénateau, H; Veyssière, A

2016-09-01

The Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is a rare genetic disease. Diagnosis is based on a combination of clinical criteria described in the classification of Villefranche. Diagnosis is difficult to make because of the lack of specific clinical signs and the absence of genetic testing. The EDS-TH manifests itself manly by musculoskeletal pain and joint hypermobility. Temporomandibular disorders (TMD) are also reported. Our aim was to objectify the presence and to qualify the type of TMD associated with the EDS-HT in order to propose an additional diagnostic argument. A prospective, monocenter case-control study, comparing a cohort of patients suffering from EDS-HT to a paired control group of healthy volunteers has been conducted. Clinical examination was standardized, including a general questioning, an oral examination and a temporomandibular joint examination following the TMD/RDC (temporomandibular disorders/research diagnostic criteria). Fourteen EDS-HT patients and 58 control patients were examined. The prevalence of TMDs (n=13; 92.9% vs. n=4; 6.9%; P=10(-11)) was significantly higher in the EDS-HT group. TMDs occurring in the EDS-HT group were complex, combining several mechanisms in contrast to the control group, where only one mechanism was found in all the patients (n=13; 92.9% vs. n=0; 0.0%). TMDs are strongly associated with RDS-HT. TMDs could therefore be used in the diagnosis of this disease. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Case-control vaccine effectiveness studies: Preparation, design, and enrollment of cases and controls.

Science.gov (United States)

Verani, Jennifer R; Baqui, Abdullah H; Broome, Claire V; Cherian, Thomas; Cohen, Cheryl; Farrar, Jennifer L; Feikin, Daniel R; Groome, Michelle J; Hajjeh, Rana A; Johnson, Hope L; Madhi, Shabir A; Mulholland, Kim; O'Brien, Katherine L; Parashar, Umesh D; Patel, Manish M; Rodrigues, Laura C; Santosham, Mathuram; Scott, J Anthony; Smith, Peter G; Sommerfelt, Halvor; Tate, Jacqueline E; Victor, J Chris; Whitney, Cynthia G; Zaidi, Anita K; Zell, Elizabeth R

2017-06-05

Case-control studies are commonly used to evaluate effectiveness of licensed vaccines after deployment in public health programs. Such studies can provide policy-relevant data on vaccine performance under 'real world' conditions, contributing to the evidence base to support and sustain introduction of new vaccines. However, case-control studies do not measure the impact of vaccine introduction on disease at a population level, and are subject to bias and confounding, which may lead to inaccurate results that can misinform policy decisions. In 2012, a group of experts met to review recent experience with case-control studies evaluating the effectiveness of several vaccines; here we summarize the recommendations of that group regarding best practices for planning, design and enrollment of cases and controls. Rigorous planning and preparation should focus on understanding the study context including healthcare-seeking and vaccination practices. Case-control vaccine effectiveness studies are best carried out soon after vaccine introduction because high coverage creates strong potential for confounding. Endpoints specific to the vaccine target are preferable to non-specific clinical syndromes since the proportion of non-specific outcomes preventable through vaccination may vary over time and place, leading to potentially confusing results. Controls should be representative of the source population from which cases arise, and are generally recruited from the community or health facilities where cases are enrolled. Matching of controls to cases for potential confounding factors is commonly used, although should be reserved for a limited number of key variables believed to be linked to both vaccination and disease. Case-control vaccine effectiveness studies can provide information useful to guide policy decisions and vaccine development, however rigorous preparation and design is essential. Published by Elsevier Ltd.

Ortner's syndrome: case series and literature review.

Science.gov (United States)

Subramaniam, Vijayalakshmi; Herle, Adarsha; Mohammed, Navisha; Thahir, Muhammad

2011-01-01

More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. Case study. Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.

Stewart-Treves syndrome: case report

Energy Technology Data Exchange (ETDEWEB)

Andrade, Wesley Pereira [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Mastology Dept.], e-mail: wesley.andrade@hotmail.com; Aguiar Junior, Samuel; Lopes, Ademar [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Pelvic Surgery Dept.; Batista, Ranyell Matheus Spencer S.; Ribeiro, Marcio Ventura [Hospital A.C. Camargo, Sao Paulo, SP (Brazil)

2008-07-01

In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

Stewart-Treves syndrome: case report

International Nuclear Information System (INIS)

Andrade, Wesley Pereira

2008-01-01

In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

Thoracic air-leakage syndrome in allogeneic stem cell transplant recipients as a late complication of chronic graft-versus-host disease: A case report

Energy Technology Data Exchange (ETDEWEB)

Park, Jae Wook; Kim, Song Soo; Jo, Daeg Yeon; Yun, Hwan Jung; Lee, Hyo Jin; Kim, Jin Hwan [Chungnam National University Hospital, Chungnam National University School of Medicine, Daejeon (Korea, Republic of)

2016-08-15

Air-leakage syndrome associated with graft-versus-host disease (GVHD) is a rare complication, but it is also reported as an independent predictor of a worse survival rate after stem cell transplantation. We report two cases of air-leakage syndrome associated with GVHD after allogeneic stem cell transplantation in acute leukemia patients who presented with spontaneous pneumomediastinum and subcutaneous emphysema, and finally death due to respiratory failure seven to eight months later.

Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome

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Preetha Balaji

2017-01-01

Full Text Available Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

Long-term survival and causes of death in patients with ST-elevation acute coronary syndrome without obstructive coronary artery disease

DEFF Research Database (Denmark)

Andersson, Hedvig Bille; Pedersen, Frants; Engstrøm, Thomas

2018-01-01

Aims: We aimed to study survival and causes of death in patients with ST-elevation acute coronary syndrome (STE-ACS) with and without obstructive coronary artery disease (CAD). Methods and results: We included 4793 consecutive patients with STE-ACS triaged for acute coronary angiography at a larg...... than patients with obstructive CAD. Causes of death were less often cardiovascular. This suggests that STE-ACS patients without obstructive CAD warrant medical attention and close follow-up.......Aims: We aimed to study survival and causes of death in patients with ST-elevation acute coronary syndrome (STE-ACS) with and without obstructive coronary artery disease (CAD). Methods and results: We included 4793 consecutive patients with STE-ACS triaged for acute coronary angiography at a large...

Chanarin Dorfman Syndrome: A Case Report

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Yasemin Ozkale

2015-09-01

Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

Late-onset superior mesenteric artery syndrome four years following scoliosis surgery – a case report

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Abol Oyoun Nariman

2015-01-01

Full Text Available Background: Superior mesenteric artery (SMA syndrome has been reported as an uncommon condition of external vascular compression of the SMA particularly after rapid weight loss, body casts, or after corrective surgery for spinal deformities, usually within the first few weeks after surgery. Methods: This is a retrospective report of a case of a non-verbal autistic female patient who started to develop SMA syndrome at the age of 16, 4 years after posterior spinal fusion surgery for scoliosis. She was treated conservatively by increasing oral caloric intake, which resulted in increased body weight and relief of symptoms. Results: Seen at 10 years’ follow up, the patient is doing well, and is functional within the limits of her suboptimal cognitive and verbal conditions. She maintains good trunk balance with solid spinal fusion and intact instrumentation at latest follow up. Conclusion: Spinal surgeons should maintain a high index of suspicion for diagnosis of SMA syndrome even years after scoliosis surgery, especially for patients with communication problems, like the case we present here. Appropriate conservative measures can succeed in relieving the symptoms, increasing body weight, and preventing complications including the risk of death.

[Two cases of acute coronary syndrome after intake of Clavis Panax].

Science.gov (United States)

Atar, Aslı İnci; Er, Okan; Güven, Abdullah; Eryonucu, Beyhan

2012-04-01

Atherosclerotic cardiovascular disease is an epidemic in today's world. It is one of the most common causes of hospitalization and death. Therefore, remedies to control or heal the disease are continuously sought. In addition to scientifically researched therapies, patients frequently utilize alternative medicine. However, effective and toxic doses, metabolisms, and drug interactions of the herbs and herbal nutrition supplements are largely unknown. Herein, we present two cases with acute coronary syndrome. The first case was admitted with a diagnosis of acute inferior myocardial infaction (MI) and a stent was implanted to the occluded right coronary artery (RCA). There was a 50% stenosis in his left anterior descending artery (LAD). He was admitted with a diagnosis of non-ST elevation MI (NSTEMI) 6 months later. In the coronary angiogram, there was stent restenosis in RCA, the lesion in LAD had become thrombotic and progressed to a stenosis of 90%. He was referred to surgical revascularization. The second case was admitted for acute inferior MI and a stent was implanted to the occluded circumflex artery. Two months later, he was hospitalized for NSTEMI. Progression of coronary plaques to stenosis and stent restenosis was detected and he was referred to surgical revascularization. Both patients used the product sold as Clavis Panax, which contains panax ginseng, tribulus terrestris, and oat, after their first coronary intervention. Intake of a mixture of plant extracts may have serious consequences in humans as drug interactions and side effects are unknown.

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

NARCIS (Netherlands)

Veenstra-Knol, HE; Kleibeuker, A; Timmer, A; ten Kate, LP; van Essen, AJ

2003-01-01

Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankylo-blepharon, hypoplastic nose, orofacial

Role of atrial fibrillation and atrioventricular conduction (including Wolff-Parkinson-White Syndrome) in sudden death

NARCIS (Netherlands)

Meijler, F.L.; Tweel, I. van der; Herbschleb, J.N.; Hauer, R.N.W.; Robles de Medina, E.O.

A short refractory period of the accessory pathway is considered a major threat for sudden death in patients with Wolff-Parkinson-White syndrome and atrial fibrillation. RR interval and QRS signal analysis together with signal analysis of a bipolar high right atrial electrogram were obtained in six

Death certificate data and causes of death in patients with parkinsonism.

Science.gov (United States)

Moscovich, Mariana; Boschetti, Gabriela; Moro, Adriana; Teive, Helio A G; Hassan, Anhar; Munhoz, Renato P

2017-08-01

Assessment of variables related to mortality in Parkinson disease (PD) and other parkinsonian syndromes relies, among other sources, on accurate death certificate (DC) documentation. We assessed the documentation of the degenerative disorder on DCs and evaluated comorbidities and causes of death among parkinsonian patients. Demographic and clinical data were systematically and prospectively collected on deceased patients followed at a tertiary movement disorder clinic. DCs data included the documentation of parkinsonism, causes, and place of death. Among 138 cases, 84 (60.9%) male, mean age 77.9 years, mean age of onset 66.7, and mean disease duration 10.9 years. Clinical diagnoses included PD (73.9%), progressive supranuclear palsy (10.9%), multiple system atrophy (7.2%), Lewy body dementia (7.2%) and corticobasal degeneration (0.7%). Psychosis occurred in 60.1% cases, dementia in 48.5%. Most PD patients died due to heterogeneous causes before reaching advanced stages. Non-PD parkinsonian patients died earlier due to causes linked to the advanced neurodegenerative process. PD was documented in 38.4% of DCs with different forms of inconsistencies. That improved, but remained significant when it was signed by a specialist. More than half of PD cases died while still ambulatory and independent, after a longer disease course and due to causes commonly seen in that age group. Deaths among advanced PD patients occurred due to causes similar to what we found in non-PD cases. These findings can be useful for clinical, prognostic and counseling purposes. Underlying parkinsonian disorders are poorly documented in DCs, undermining its' use as sources of data collection. Copyright © 2017 Elsevier Ltd. All rights reserved.

NOONAN SYNDROME – CASE REPORT

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Milena Vujanović

2014-06-01

Full Text Available Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. Ocular changes occur in 95% of patients and usually include hypertelorism, ptosis, refractive errors, strabismus, amblyopia, rarely nystagmus, colobomas, cataracts, optic nerve drusen. Case report: We present a case of a boy, 10 months old, referred by the pediatrician because of strabismus. During the general examination of the head and face, we noted that the ears were low-set, and the lower jaw was slightly smaller. Ophthalmological examination revealed hypertelorism, left eye esotropia, hyperopia, and optic disc pit. Other associated malformations were: dilatation of both pyelons, cryptorchidism, pulmonary stenosis. Genetic analysis confirmed the diagnosis of Noonan syndrome. The variety of clinical manifestations of this syndrome indicates that a multidisciplinary approach is necessary for diagnosis, treatment, and follow-up of these patients.

EPA and DHA in blood cell membranes from acute coronary syndrome patients and controls.

Science.gov (United States)

Block, Robert C; Harris, William S; Reid, Kimberly J; Sands, Scott A; Spertus, John A

2008-04-01

Increased blood levels of the omega-3 fatty acids (FA) eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) have been inversely associated with risk for sudden cardiac death, but their relationship with acute coronary syndromes (ACS) is unclear. We hypothesized that the EPA+DHA content of blood cell membranes, as a percent of total FAs, is reduced in ACS patients relative to matched controls. We measured the content of EPA+DHA in 768 ACS patients and 768 age-, sex- and race-matched controls. The association with ACS case status of blood cell EPA+DHA [both by a 1 unit change and by category (low, or =8%)] was assessed using multivariate conditional logistic regression models adjusting for matching variables and smoking status, alcohol use, diabetes, body mass index, serum lipids, education, family history of coronary artery disease, personal histories of myocardial infarction and hypertension, and statin, aspirin, and other antiplatelet drug use. The combined groups had a mean age of 61+/-12 years, 66% were male, and 92% were Caucasian. The EPA+DHA content was 20% lower in cases than controls (3.4+/-1.6 vs. 4.25+/-2.0%, pACS event was 0.58 (95% CI 0.42-0.80), in the intermediate EPA+DHA group and was 0.31 (95% CI 0.14-0.67; p for trend ACS case status increased incrementally as the EPA+DHA content decreased suggesting that low EPA+DHA may be associated with increased risk for ACS.

Gorlin-goltz syndrome: a rare case.

Science.gov (United States)

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Gorlin-Goltz Syndrome: A Rare Case

OpenAIRE

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Acute haemorrhagic diarrhoea syndrome in dogs: 108 cases.

Science.gov (United States)

Mortier, F; Strohmeyer, K; Hartmann, K; Unterer, S

2015-06-13

No prospective studies including large numbers of dogs with acute haemorrhagic diarrhoea syndrome (AHDS) are published so far. The aim of this case-control study was to describe signalment, history, clinical signs, laboratory values and course of disease in dogs with AHDS. Dogs (108) with idiopathic acute haemorrhagic diarrhoea (schnauzer and Maltese. The syndrome was more likely to occur during winter. Vomiting preceded the onset of bloody diarrhoea in 80 per cent of dogs and haematemesis was observed in half of those cases. Median AHDS index at presentation was 12 (range 3-17). Haematocrit was generally high (median 57.1 per cent; range 33-76 per cent), but exceeded 60 per cent only in 31.4 per cent of dogs. Haematocrit of 48.1 per cent of dogs was above reference range, as was monocyte (50.0 per cent), segmented (59.6 per cent) and band neutrophil count (45.2 per cent). A rapid clinical improvement occurred during the first 48 hours. British Veterinary Association.

A case of Trousseau syndrome caused by pulmonary adenocarcinoma that was controlled for one year and 10 months with thrombosis treatment using an EGFR tyrosine kinase inhibitor and chemotherapy

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Hiroaki Masubuchi

2015-01-01

Trousseau syndrome carries a poor prognosis and controlling thrombosis is difficult. In this case, the administration of anticancer therapy allowed use to control the patient's thrombosis. Therefore, this case highlights the importance of treating cancer in patients with Trousseau syndrome. In addition, the FDP and D-dimer levels changed in parallel with changes in the CEA level, which suggests that the activity of cancer is related to an internal thrombotic tendency. Hence, changes in the FDP and D-dimer values are associated with the efficacy of treatment with EGFR tyrosine kinase inhibitors and chemotherapy and may function as markers of recurrence.

Case Report - Neonatal progeroid syndrome (Wiedemann ...

African Journals Online (AJOL)

Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin ... pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, ...

A Single Case of Tourette’s Syndrome Treated with Traditional Chinese Medicine

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Min-Hwa Lee

2017-02-01

Full Text Available The objective of this case study was to investigate the effectiveness of Chinese medicine in treating Tourette's syndrome. Tourette's syndrome is a childhood- onset disorder that is characterized by sudden, involuntary movements or tics. The participant in this study was a 33-year-old male who had been diagnosed with Tourette's syndrome at the age of 9 years. His major complaints included facial tics, shoulder shrugging, and clearing the throat. Using a combination of acupuncture, herbs, Gua-Sha, and lifestyle changes once a week for 35 treatments, all the symptoms were reduced by 70%, as reported by the patient. In this case, the results indicated that Chinese medicine was able to minimize the symptoms of Tourette's syndrome. Further investigation is needed to support this argument. Tourette's syndrome, which was first described in 1885 by a French physician named Gilles de la Tourette, is characterized by facial tics, involuntary body movements from the head to the extremities, or vocal tics, and it usually has its onset in childhood. It is a neuropsychiatric disorder. The treatment for Tourette's syndrome is based on pharmacological treatment, behavior treatment, and deep brain stimulation. Unfortunately, none of these could completely control the symptoms; furthermore, antipsychiatric drugs might cause additional side effects, such as Parkinson symptoms, tardive dyskinesia, and metabolic disturbances. Finding acupuncture and oriental medicine literature on treatment of Tourette's syndrome was difficult, especially that written in English. Some research papers that have been translated into English indicated that Chinese herbs and acupuncture could reduce the tics significantly. For example, a study by Dr Pao-Hua Lin reported the significant effects of using acupuncture and oriental medicine in treating 1000 Tourette's syndrome cases. This case was treated to further investigate the principles of Dr Lin's study.

Twin-twin transfusion syndrome - diagnosis and prognosis

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Hajrić-Egić Amira

2003-01-01

Full Text Available Twin-twin transfusion syndrome is a serious complication of monozygotic, monochorionic, diamniotic twins resulting from transplacental vascular communications. In this syndrome blood is thought to be shunted from one twin - donor,who develops anaemia,growth retardation and oligoamnios, to the other twin - recipient,who becomes plethoric,macrosomic and develops polyhydroamnios. The incidence of twin-twin transfusion syndrome ranges from 5-15% of all twin pregnancies. If this condition develops in the second trimester, it is usually associated with spontaneous abortion and death of one or both fetuses before viability. Developing the syndrome in the third trimester has better perinatal outcome. Mortality rates ranging from 56%-100%, depending on gestational age and severity of the syndrome. The ultrasound criterias for diagnosis, in this study,were the presence of twins of the same sex with discordant growth, with oligohydroamnios in one twin sac and polyhydroamnios in the other one, one placenta and thin membrane between twins. The present study shows clinical course of 14 cases and value of Doppler ultrasound to analyze the usefulness of umbilical artery blood flow velocimetry for predicting the risk of twin-twin transfusion syndrome. 14 twin pregnancies with twin-twin transfusion syndrome were diagnosed during the last four years period and prospectivelly followed. 9 cases were diagnosed before the completion od 28 weeks of gestation.The mean gestational age was 21,6_+4,2 weeks at diagnosis and 23,2+_3,6 weeks at delivery. 5 cases were diagnosed after 28 weeks of gestation. The mean gestational age in this group was 29,6+_2,1 weeks at diagnosis and 33+_3,3 weeks at delivery. The survival rate in this study was 29%(8/28.9 cases ended in spontaneous abortion between 18th and 27th weeks of pregnancy (table 1 and 5 in premature labor (table 2.There were 7 intrauterine death (5 at admission and 2 few days after admission and 13 neonatal deaths

Sturge Weber Syndrome: review of literature with case illustration

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Satyarthee Guru Dutta

2017-03-01

Full Text Available Sturge-Weber syndrome (SWS also called as encephalotrigeminal angiomatosis, is a sporadically occurring rare neuro-cutaneous syndrome, characterized by vascular malformation with capillary venous angiomas involving face, choroidal layer of eye globe and leptomeninges responsible for ophthamological as well as neurological signs and symptoms. Authors report an interesting case, a six year old girl, who presented with seizures, facial port wine stain and normal psychomotor development. CT scan showed left cerebral hemiatrophy, left frontal and parieto occipital calcification with cortical calcification in left high frontal convexity. Cranial MRI scan also confirmed finding of left cerebral hemiatrophy and also revealed presence of gyriform cortical calcification, prominent flow voids seen in left basal ganglia. Her seizure is well controlled with antiepileptic medication. The pertinent literature is reviewed and management of such cases is discussed briefly.

Leptomeningeal neurons are a common finding in infants and are increased in sudden infant death syndrome

NARCIS (Netherlands)

Rickert, Christian H.; Gross, Oliver; Nolte, Kay W.; Vennemann, Mechtild; Bajanowski, Thomas; Brinkmann, Bernd

Developmental abnormalities of the brain, in particular, the brainstem potentially affecting centers for breathing, circulation and sleep regulation, are thought to be involved in the etiology of sudden infant death syndrome (SIDS). In order to investigate whether leptomeningeal neurons could serve

Case report of sudden death in a child with Williams syndrome ...

African Journals Online (AJOL)

Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of ...

Phosphate homeostasis in Bartter syndrome: a case-control study.

Science.gov (United States)

Bettinelli, Alberto; Viganò, Cristina; Provero, Maria Cristina; Barretta, Francesco; Albisetti, Alessandra; Tedeschi, Silvana; Scicchitano, Barbara; Bianchetti, Mario G

2014-11-01

Bartter patients may be hypercalciuric. Additional abnormalities in the metabolism of calcium, phosphate, and calciotropic hormones have occasionally been reported. The metabolism of calcium, phosphate, and calciotropic hormones was investigated in 15 patients with Bartter syndrome and 15 healthy subjects. Compared to the controls, Bartter patients had significantly reduced plasma phosphate {mean [interquartile range]:1.29 [1.16-1.46] vs. 1.61 [1.54-1.67] mmol/L} and maximal tubular phosphate reabsorption (1.16 [1.00-1.35] vs. 1.41 [1.37-1.47] mmol/L) and significantly increased parathyroid hormone (PTH) level (6.1 [4.5-7.7] vs. 2.8 [2.2-4.4] pmol/L). However, patients and controls did not differ in blood calcium, 25-hydroxyvitamin D, alkaline phosphatase, and osteocalcin levels. In patients, an inverse correlation (P Bartter patients.

[Clinical study of 12 cases with obstetric mirror syndrome].

Science.gov (United States)

Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

2012-03-01

To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

Congenital nephrotic syndrome. Gallium-67 imaging

International Nuclear Information System (INIS)

Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

1988-01-01

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death

Science.gov (United States)

Crotti, Lia; Tester, David J.; White, Wendy M.; Bartos, Daniel C.; Insolia, Roberto; Besana, Alessandra; Kunic, Jennifer D.; Will, Melissa L.; Velasco, Ellyn J.; Bair, Jennifer J.; Ghidoni, Alice; Cetin, Irene; Van Dyke, Daniel L.; Wick, Myra J.; Brost, Brian; Delisle, Brian P.; Facchinetti, Fabio; George, Alfred L.; Schwartz, Peter J.; Ackerman, Michael J.

2013-01-01

Importance Intrauterine fetal death or stillbirth occurs in approximately 1 out of every 160 pregnancies and accounts for 50% of all perinatal deaths. Postmortem evaluation fails to elucidate an underlying cause in many cases. Long QT syndrome (LQTS) may contribute to this problem. Objective To determine the spectrum and prevalence of mutations in the 3 most common LQTS susceptible genes (KCNQ1, KCNH2, and SCN5A) for a cohort of unexplained cases. Design, Setting, and Patients In this case series, retrospective postmortem genetic testing was conducted on a convenience sample of 91 unexplained intrauterine fetal deaths (mean [SD] estimated gestational age at fetal death, 26.3 [8.7] weeks) that were collected from 2006-2012 by the Mayo Clinic, Rochester, Minnesota, or the Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. More than 1300 ostensibly healthy individuals served as controls. In addition, publicly available exome databases were assessed for the general population frequency of identified genetic variants. Main Outcomes and Measures Comprehensive mutational analyses of KCNQ1 (KV7.1, LQTS type 1), KCNH2 (HERG/KV11.1, LQTS type 2), and SCN5A (NaV1.5, LQTS type 3) were performed using denaturing high-performance liquid chromatography and direct DNA sequencing on genomic DNA extracted from decedent tissue. Functional analyses of novel mutations were performed using heterologous expression and patch-clamp recording. Results The 3 putative LQTS susceptibility missense mutations (KCNQ1, p.A283T; KCNQ1, p.R397W; and KCNH2[1b], p.R25W), with a heterozygous frequency of less than 0.05% in more than 10000 publicly available exomes and absent in more than 1000 ethnically similar control patients, were discovered in 3 intrauterine fetal deaths (3.3% [95% CI, 0.68%-9.3%]). Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation

Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

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Е. А. Roslavtseva

2015-01-01

Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

A long-term survivor of Bland-White-Garland syndrome with systemic collateral supply: A case report and review of the literature

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Papagiannopoulou P

2005-12-01

Full Text Available Abstract Background land-White-Garland syndrome (anomalous origin of the left coronary artery from the pulmonary artery is a rare disease which may result in myocardial infarction, congestive heart failure and sometimes death during the early infantile period. Case presentation: A succesfully treated case of a 45-year-old mother of 2 children with Bland-White-Garland syndrome and concomitant severe mitral regurgitation is presented. Subsequent therapy consisted of ligation of the anomalous origin of the left coronary artery, anastomosis of the left internal mammary artery to the left anterior descending branch and mitral valve replacement. Continuous blood flow from the left coronary artery ostium during extracorporeal circulation and aorta clamping suggested systemic collateral supply. Conclusions: Recognition and diagnosis of Bland-White-Garland syndrome is important due to its potentially life-threatening complications.

Gorlin-Goltz syndrome: A rare case

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Satyaki Ganguly

2015-01-01

Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Risk of metabolic syndrome among children living in metropolitan Kuala Lumpur: A case control study

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Ismail Mohd N

2011-05-01

Full Text Available Abstract Background With the increasing prevalence of childhood obesity, the metabolic syndrome has been studied among children in many countries but not in Malaysia. Hence, this study aimed to compare metabolic risk factors between overweight/obese and normal weight children and to determine the influence of gender and ethnicity on the metabolic syndrome among school children aged 9-12 years in Kuala Lumpur and its metropolitan suburbs. Methods A case control study was conducted among 402 children, comprising 193 normal-weight and 209 overweight/obese. Weight, height, waist circumference (WC and body composition were measured, and WHO (2007 growth reference was used to categorise children into the two weight groups. Blood pressure (BP was taken, and blood was drawn after an overnight fast to determine fasting blood glucose (FBG and full lipid profile, including triglycerides (TG, high-density lipoprotein cholesterol (HDL-C, low-density lipoprotein cholesterol (LDL-C and total cholesterol (TC. International Diabetes Federation (2007 criteria for children were used to identify metabolic syndrome. Results Participants comprised 60.9% (n = 245 Malay, 30.9% (n = 124 Chinese and 8.2% (n = 33 Indian. Overweight/obese children showed significantly poorer biochemical profile, higher body fat percentage and anthropometric characteristics compared to the normal-weight group. Among the metabolic risk factors, WC ≥90th percentile was found to have the highest odds (OR = 189.0; 95%CI 70.8, 504.8, followed by HDL-C≤1.03 mmol/L (OR = 5.0; 95%CI 2.4, 11.1 and high BP (OR = 4.2; 95%CI 1.3, 18.7. Metabolic syndrome was found in 5.3% of the overweight/obese children but none of the normal-weight children (p Conclusions We conclude that being overweight or obese poses a greater risk of developing the metabolic syndrome among children. Indian ethnicity is at higher risk compared to their counterparts of the same age. Hence, primary intervention strategies are

The modes of death in mammals exposed to whole body radiation (acute radiation syndromes)

International Nuclear Information System (INIS)

Santos, O.R. dos.

1990-07-01

When an animal is exposed to a sufficient amount of radiation, there will be changes in many organs of the body, and as a result of either the effects in one particular organ or the interaction of effects in several organs, the animal as a whole will show characteristic syndromes. Some syndromes result inevitably in death. Others may or may not be lethal, depending on the extent of the tissue damage. The time of appearance of the syndromes, their duration, and the survival of the organism depend on many factors. Whole body acute doses of radiation produce the same spectrum of Central Nervous System (CNS), Gastrointestinal (GI) and Bone Marrow (BM) injury in man as was described for animals. Damage to the skin, ovary and testis are an integral and important part of the symptoms. (author) [pt

Sudden death in a case of catatonia due to pulmonary embolism

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Archana Javadekar

2014-01-01

Full Text Available Catatonic syndrome carries relatively high mortality. One of the causes of death is pulmonary embolism. Prolonged immobility, dehydration, use of low-potency antipsychotic drugs, and electroconvulsive therapy (ECT increase the risk of venous thromboembolism. Evaluating the risk of catatonic patients is of paramount importance. Prevention of venous thromboembolism by reducing the risk factors and relieving catatonic symptoms early is essential.

Sudden cardiac death

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Neeraj Parakh

2015-01-01

Full Text Available Sudden cardiac death is one of the most common cause of mortality worldwide. Despite significant advances in the medical science, there is little improvement in the sudden cardiac death related mortality. Coronary artery disease is the most common etiology behind sudden cardiac death, in the above 40 years population. Even in the apparently healthy population, there is a small percentage of patients dying from sudden cardiac death. Given the large denominator, this small percentage contributes to the largest burden of sudden cardiac death. Identification of this at risk group among the apparently healthy individual is a great challenge for the medical fraternity. This article looks into the causes and methods of preventing SCD and at some of the Indian data. Details of Brugada syndrome, Long QT syndrome, Genetics of SCD are discussed. Recent guidelines on many of these causes are summarised.

Risk of metabolic syndrome among children living in metropolitan Kuala Lumpur: a case control study.

Science.gov (United States)

Wee, Bee S; Poh, Bee K; Bulgiba, Awang; Ismail, Mohd N; Ruzita, Abdul T; Hills, Andrew P

2011-05-18

With the increasing prevalence of childhood obesity, the metabolic syndrome has been studied among children in many countries but not in Malaysia. Hence, this study aimed to compare metabolic risk factors between overweight/obese and normal weight children and to determine the influence of gender and ethnicity on the metabolic syndrome among school children aged 9-12 years in Kuala Lumpur and its metropolitan suburbs. A case control study was conducted among 402 children, comprising 193 normal-weight and 209 overweight/obese. Weight, height, waist circumference (WC) and body composition were measured, and WHO (2007) growth reference was used to categorise children into the two weight groups. Blood pressure (BP) was taken, and blood was drawn after an overnight fast to determine fasting blood glucose (FBG) and full lipid profile, including triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC). International Diabetes Federation (2007) criteria for children were used to identify metabolic syndrome. Participants comprised 60.9% (n = 245) Malay, 30.9% (n = 124) Chinese and 8.2% (n = 33) Indian. Overweight/obese children showed significantly poorer biochemical profile, higher body fat percentage and anthropometric characteristics compared to the normal-weight group. Among the metabolic risk factors, WC ≥90th percentile was found to have the highest odds (OR = 189.0; 95%CI 70.8, 504.8), followed by HDL-C≤1.03 mmol/L (OR = 5.0; 95%CI 2.4, 11.1) and high BP (OR = 4.2; 95%CI 1.3, 18.7). Metabolic syndrome was found in 5.3% of the overweight/obese children but none of the normal-weight children (p < 0.01). Overweight/obese children had higher odds (OR = 16.3; 95%CI 2.2, 461.1) of developing the metabolic syndrome compared to normal-weight children. Binary logistic regression showed no significant association between age, gender and family history of communicable diseases with the metabolic

Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

Science.gov (United States)

Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

2017-09-01

Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Churg-strauss syndrome: a case report.

Science.gov (United States)

Zhdan, Vyacheslav М; Kitura, Yevdokiia М; Kitura, Oksana Ye; Babanina, Maryna Yu; Tkachenko, Maksym V; Lebid, Volodymyr G

A clinical case of Churg-Strauss syndrome has been reported on the 53-year-old female patient Ts. with bronchial asthma and allergic rhinitis. The main clinical signs and syndromes depending on the stage of the disease are presented, as well as therapeutic treatment of patients with this disease.

Comparison of extended colectomy and limited resection in patients with Lynch syndrome.

Science.gov (United States)

Natarajan, Nagendra; Watson, Patrice; Silva-Lopez, Edibaldo; Lynch, Henry T

2010-01-01

The purpose of the study was to determine the advantages and disadvantages of prophylactic/extended colectomy (subtotal colectomy) in patients with Lynch syndrome who manifest colorectal cancer. A retrospective cohort using Creighton University's hereditary cancer database was used to identify cases and controls. Cases are patients who underwent subtotal colectomy, either with no colorectal cancer diagnosis (prophylactic) or at diagnosis of first colorectal cancer; controls for these 2 types of cases were, respectively, patients who underwent no colon surgery or those having limited resection at time of diagnosis of first colorectal cancer. The Kaplan-Meier and proportional hazard regression models from the Statistical Analysis Software program was used to calculate the difference in survival, time to subsequent colorectal cancer, and subsequent abdominal surgery between cases and controls. The event-free survival of our study did not reach 50%, so we used the event-free survival at 5 years as our parameter to compare the 2 groups. The event-free survival for subsequent colorectal cancer, subsequent abdominal surgery, and death was 94%, 84%, and 93%, respectively, for cases and 74%, 63%, and 88%, respectively, for controls. Times to subsequent colorectal cancer and subsequent abdominal surgery were significantly shorter in the control group (P Lynch syndrome.

Antiphospholipid syndrome: A case study

International Nuclear Information System (INIS)

Davies, T.

1998-01-01

Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient''s high risk of strokes and hemorrhaging prompted investigation by a 99 mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome

Antiphospholipid syndrome: A case study

Energy Technology Data Exchange (ETDEWEB)

Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

1998-03-01

Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

Post-partum posterior reversible encephalopathy syndrome

DEFF Research Database (Denmark)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder

2015-01-01

Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis...... and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood...

Post-partum posterior reversible encephalopathy syndrome

DEFF Research Database (Denmark)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder

2015-01-01

and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood......Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis...

[Post-partum posterior reversible encephalopathy syndrome].

Science.gov (United States)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder; Bülow, Hans Henrik

2015-11-23

Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood pressure test.

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

Science.gov (United States)

Boczek, Nicole J.; Tester, David J.; Ackerman, Michael J.

2013-01-01

Annually thousands of sudden deaths involving young individuals (autopsy. In fact, epidemiological studies have estimated that over half of sudden deaths involving previously healthy young individuals have no morphological abnormalities identifiable at autopsy. Cardiac channelopathies associated with structurally normal hearts such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS), leave no evidence to be found at autopsy, leaving investigators to only speculate that a lethal arrhythmia might lie at the heart of a sudden unexplained death (SUD). In cases of autopsy-negative SUD, continued investigation, through the use of a cardiological and genetic evaluation of first- or second-degree relatives and/or a molecular autopsy, may pinpoint the underlying mechanism attributing to the sudden death and allow for the identification of living family members with the pathogenic substrate that renders them vulnerable to an increased risk for cardiac events, including sudden death. PMID:22993115

Serotonin Syndrome: A Case Report

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Pedro Oliveira

2018-01-01

Full Text Available Serotonin Syndrome (SS is a potentially fatal iatrogenic condition that occurs as a result of an over-stimulation of the serotonergic receptors. Its typical presentation consists of the triad altered mental status, autonomic hyperactivity and neuromuscular alterations, although the clinical condition is highly variable. Despite being potentially treatable, many cases per year are underdiagnosed, a fact that has been mainly attributed to the lack of knowledge of this condition by the physicians. SS treatment relies on four pillars: removal of the precipitating agent and supportive therapy, antagonism of 5-HT2A receptors, and control of agitation, autonomic instability and hyperthermia. It is expected that its incidence will accompany the growth of the prescription of antidepressants, andincreasing physician’s awareness about its occurrence, could contribute to a timely diagnosis and to the success of the treatment. We present a clinical case of a patient diagnosed with Bipolar Affective Disorder, hospitalized for a depressive episode with a psychotic component, which developed a SS compatible condition. Based on this case report the authors undertake a theoretical review of this condition.

A Case of Male Goltz Syndrome

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Bhaswati Ghoshal

2012-01-01

Full Text Available We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia, a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.

Case Report: Cervical Klippel-Feil syndrome predisposing an ...

African Journals Online (AJOL)

Case Report: Cervical Klippel-Feil syndrome predisposing an elderly African man to central cord myelopathy following minor trauma. ... unique presentation of this case of Klippel-Feil syndrome further supports the impression that following fusion (congenital or acquired) of one segment of the spinal column, hypermobility of ...

Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children

DEFF Research Database (Denmark)

Banner, Jytte; Kølvraa, S; Gregersen, N

1997-01-01

Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl Co......A dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found....

Cotard’s Syndrome: Two Cases of Self-Starvation

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Bruno Gonçalves Teixeira

2015-11-01

Full Text Available Background: Cotard´s syndrome is a relatively rare condition characterized by various degrees of nihilist delusions, often in the form of self-negation. Aims: To report two cases of Cotard’s syndrome associated with self-starvation and to review the concept and clinical features of the condition. Methods: Two clinical cases of the syndrome were obtained and a literature review of the theme was shortly surveyed. Results and Conclusions: The first case is about a woman who believed that her esophagus and stomach were glued. She was treated with sertraline, mirtazapine and risperidone with good results. The second case describes a man who believed his throat was burnt and he had no internal organs. He was treated with clomipramine and risperidone showing great improvement. This syndrome is a nosological and clinical entity that should not be forgotten. It is essential to provide an urgent and adequate therapeutic approach to these patients.

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population

NARCIS (Netherlands)

G. Liebrechts-Akkerman (Germaine); F. Liu (Fan); O. Lao Grueso (Oscar); A.H.A.G. Ooms (Ariadne ); K. van Duijn (Kate); M. Vermeulen (Mark); V.W.V. Jaddoe (Vincent); A. Hofman (Albert); A.C. Engelberts (Adele); M.H. Kayser (Manfred)

2014-01-01

textabstractUnclassified sudden infant death (USID) is the sudden and unexpected death of an infant that remains unexplained after thorough case investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. When the infant is below 1

H Syndrome: A case report and review of literature

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Dilip Meena

2018-01-01

Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

H Syndrome: A Case Report and Review of Literature

Science.gov (United States)

Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

2018-01-01

H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

Vestibular dysfunction in Turner syndrome: a case report.

Science.gov (United States)

Baxter, Michael; Agrawal, Yuri

2014-02-01

Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

[Maternal deaths due to infectious cause, results from the French confidential enquiry into maternal deaths, 2010-2012].

Science.gov (United States)

Rigouzzo, A; Tessier, V; Zieleskiewicz, L

2017-12-01

Over the period 2010-2012, maternal mortality from infectious causes accounted for 5% of maternal deaths by direct causes and 16% of maternal deaths by indirect causes. Among the 22 deaths caused by infection occurred during this period, 6 deaths were attributed to direct causes from genital tract origin, confirming thus the decrease in direct maternal deaths by infection during the last ten years. On the contrary, indirect maternal deaths by infection, from extragenital origin, doubled during the same period, with 16 deaths in the last triennium, dominated by winter respiratory infections, particularly influenza: the 2009-2010 influenza A (H1N1) virus pandemic was the leading cause of indirect maternal mortality by infection during the studied period. The main infectious agents involved in maternal deaths from direct causes were Streptococcus A, Escherichia Coli and Clostridium perfringens: these bacterias were responsible for toxic shock syndrome, severe sepsis, secondary in some cases to cellulitis or necrotizing fasciitis. Of the 6 deaths due to direct infection, 4 were considered avoidable because of inadequate management: delayed or missed diagnosis, delayed or inadequate initiation of a specific medical and/or surgical treatment. Of the 16 indirect maternal deaths due to infection causes, the most often involved infectious agents were influenza A (H1N1) virus and Streptococcus pneumonia with induced purpura fulminans: the absence of influenza vaccination during pregnancy, delayed diagnosis and emergency initiation of a specific treatment, were the main contributory factors to these deaths and their avoidability in 70% of the cases analyzed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Amnioinfusion for the prevention of the meconium aspiration syndrome.

Science.gov (United States)

Fraser, William D; Hofmeyr, Justus; Lede, Roberto; Faron, Gilles; Alexander, Sophie; Goffinet, François; Ohlsson, Arne; Goulet, Céline; Turcot-Lemay, Lucile; Prendiville, Walter; Marcoux, Sylvie; Laperrière, Louise; Roy, Chantal; Petrou, Stavros; Xu, Hai-Rong; Wei, Bin

2005-09-01

It is uncertain whether amnioinfusion (infusion of saline into the amniotic cavity) in women who have thick meconium staining of the amniotic fluid reduces the risk of perinatal death, moderate or severe meconium aspiration syndrome, or both. We performed a multicenter trial in which 1998 pregnant women in labor at 36 or more weeks of gestation who had thick meconium staining of the amniotic fluid were stratified according to the presence or absence of variable decelerations in fetal heart rate and then randomly assigned to amnioinfusion or to standard care. The composite primary outcome measure was perinatal death, moderate or severe meconium aspiration syndrome, or both. Perinatal death, moderate or severe meconium aspiration syndrome, or both occurred in 44 infants (4.5 percent) of women in the amnioinfusion group and 35 infants (3.5 percent) of women in the control group (relative risk, 1.26; 95 percent confidence interval, 0.82 to 1.95). Five perinatal deaths occurred in the amnioinfusion group and five in the control group. The rate of cesarean delivery was 31.8 percent in the amnioinfusion group and 29.0 percent in the control group (relative risk, 1.10; 95 percent confidence interval, 0.96 to 1.25). For women in labor who have thick meconium staining of the amniotic fluid, amnioinfusion did not reduce the risk of moderate or severe meconium aspiration syndrome, perinatal death, or other major maternal or neonatal disorders. Copyright 2005 Massachusetts Medical Society.

The buccal cytome and micronucleus frequency is substantially altered in Down's syndrome and normal ageing compared to young healthy controls

International Nuclear Information System (INIS)

Thomas, Philip; Harvey, Sarah; Gruner, Tini; Fenech, Michael

2008-01-01

The buccal micronucleus cytome assay was used to investigate biomarkers for DNA damage, cell death and basal cell frequency in buccal cells of healthy young, healthy old and young Down's syndrome cohorts. With normal ageing a significant increase in cells with micronuclei (P < 0.05, average increase +366%), karyorrhectic cells (P < 0.001, average increase +439%), condensed chromatin cells (P < 0.01, average increase +45.8%) and basal cells (P < 0.001, average increase +233%) is reported relative to young controls. In Down's syndrome we report a significant increase in cells with micronuclei (P < 0.001, average increase +733%) and binucleated cells (P < 0.001, average increase +84.5%) and a significant decrease in condensed chromatin cells (P < 0.01, average decrease -52%), karyolytic cells (P < 0.001, average decrease -51.8%) and pyknotic cells (P < 0.001, average decrease -75.0%) relative to young controls. These changes show distinct differences between the cytome profile of normal ageing relative to that for a premature ageing syndrome, and highlight the diagnostic value of the cytome approach for measuring the profile of cells with DNA damage, cell death and proportion of cells with proliferative potential (i.e., basal cells). Significant correlations amongst cell death biomarkers observed in this study were used to propose a new model of the inter-relationship of cell types scored within the buccal micronucleus cytome assay. This study validates the use of a cytome approach to investigate DNA damage, cell death and cell proliferation in buccal cells with ageing

Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

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Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

2016-07-12

Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

A case of possible Kounis syndrome as a complication of scombroid syndrome

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Stefano Rusconi

2017-11-01

Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

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Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Anophthalmia-Waardenburg syndrome: a report of three cases.

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Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

1996-04-24

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

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von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

2013-06-01

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

Ear necrosis syndrome in weaning pigs associated with PCV2 infection: A case report

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Vassilis Papatsiros

2012-09-01

Full Text Available Porcine necrotic ear syndrome (PNES in pigs has been reported as an increasing health problem in many countries with intensive pig farming. The etiology of this disease is complex and the presumed triggering factors can be divided into infectious and non-infectious agents. The present report describes a case of Porcine Circovirus type 2 (PCV2, infection associated with lesions of PNES at the weaning stage of a farrow-to-finish pig farm. Approximately 35% of weaners (1-3 weeks after weaning presented clinical symptoms similar to Post-weaning Multisystemic Wasting Syndrome (PMWS. About 2-3 weeks after weaning the first lesions of PNES occurred in approximately 20% of pigs, resulting in a significant health problem characterized by poor growth or severe wasting and finally mortality up to 15% in some batches. Moreover, approximately 5% of survived weaners, during growing / finishing stage, presented poor growth and secondary co-infections that lead to death. The present study based on the clinical signs, serological and pathological examinations, indicates that weaners suffered by sub-acute PCV2 infection resulting in PMWS associated with PNES. The lesions of PNES were initially observed at the same period (4-8 weeks of age with the higher seroprevalence of PCV2 infection. Metaphylaxis of this case included intramuscular injection of florfenicol for the treatment and control of skin lesions and respiratory signs. Moreover, piglets were vaccinated against PCV2. In conclusion, sub-acute PCV2 infection could be included in triggering factors PNES in weaners. The mass vaccination against PCV2 of infected piglets might be effective in reduction of clinical signs and losses of PNES in cases of PCV2 infection associated with PNES.

Lowe syndrome: case report

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Eva Bahor

2018-03-01

Full Text Available Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.

Adult polysplenia syndrome. A case report

International Nuclear Information System (INIS)

Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

1997-01-01

Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

Late presentation of superior mesenteric artery syndrome following scoliosis surgery: a case report

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Tsirikos Athanasios I

2008-01-01

Full Text Available Abstract Introduction Obstruction of the third part of the duodenum by the superior mesenteric artery (SMA can occur following surgical correction of scoliosis. The condition most commonly occurs in significantly underweight patients with severe deformities during the first few days to a week following spinal surgery. Case presentation We present the atypical case of a patient with normal body habitus and a 50° adolescent idiopathic thoracolumbar scoliosis who underwent anterior spinal arthrodesis with instrumentation and developed SMA syndrome due to progressive weight loss several weeks postoperatively. The condition manifested with recurrent vomiting, abdominal distension, marked dehydration, and severe electrolyte disorder. Prolonged nasogastric decompression and nasojejunal feeding resulted in resolution of the symptoms with no recurrence at follow-up. The spinal instrumentation was retained and a solid spinal fusion was achieved with good spinal balance in both the coronal and sagittal planes. Conclusion SMA syndrome can occur much later than previously reported and with potentially life-threatening symptoms following scoliosis correction. Early recognition of the condition and institution of appropriate conservative measures is critical to prevent the development of severe complications including the risk of death.

Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.

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Tanakaya, Kohji; Yamaguchi, Tatsuro; Ishikawa, Hideki; Hinoi, Takao; Furukawa, Yoichi; Hirata, Keiji; Saida, Yoshihisa; Shimokawa, Mototsugu; Arai, Masami; Matsubara, Nagahide; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

2016-04-01

To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively. The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). In addition to colonic and uterine cancer, management and surveillance targeting gastric, ovarian and hepatobiliary cancer are considered important for Japanese families with LS. Extra-colonic cancer in families with MSH2 mutation might require for more intensive surveillance. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Environmental risk factors for sudden infant death syndrome in Japan.

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Hirabayashi, Masako; Yoshinaga, Masao; Nomura, Yuichi; Ushinohama, Hiroya; Sato, Seiichi; Tauchi, Nobuo; Horigome, Hitoshi; Takahashi, Hideto; Sumitomo, Naokata; Shiraishi, Hirohiko; Nagashima, Masami

2016-12-01

While the prevalence of sudden infant death syndrome (SIDS) has decreased worldwide, this decline has plateaued recently. Strategies are needed to resume the constant decrease of SIDS in Japan. A prospective electrocardiographic screening program for infants was performed between July 2010 and March 2011. Parents of 4319 infants were asked about environmental factors related to SIDS through questionnaires at a one-month medical checkup and one year. Parental awareness of prone position, smoke exposure, and breast feeding as environmental factors were 81.4 %, 69.0 %, and 47.8 %, respectively. The prevalence of laying infants exclusively in a supine position was 96.7 %. At the one-month medical checkup, smoking prevalence was 41.7 % in fathers and 2.1 % in mothers. Maternal smoking prevalence was significantly increased at one year after (p Japan. Smoking cessation programs should be further implemented for parents to decrease risks of SIDS in Japan. What is Known: • The prevalence of sudden infant death syndrome (SIDS) has decreased worldwide, however, this decline has plateaued recently. What is New: • Most infants were laid sleeping in the supine position (96.7 %) and were fed breast milk or a mix of expressed milk and formula (92.7 %), and 2.1 % of mothers smoked at the one-month medical checkup. • Maternal smoking prevalence significantly increased from the one-month medical checkup to one year later, and smoking mothers were more likely to feed infants by formula rather than breast milk. • Independent risk factors for new or continued maternal smoking habits included younger maternal age, maternal smoking habits at one month, and paternal smoking habits one year later.

Years of life lost through Down's syndrome.

Science.gov (United States)

Jones, M B

1979-10-01

A congenital genetic condition does not act either as a cause of death or at the time of death only. Hence, years of life lost through such a conditon cannot be calculated in the same way as for a conventional cause of death. The main difference is that a cause of death acting at age x cuts off as many years of life as the dead person might otherwise have expected to live (life expectancy at age x), whereas a congenital genetic condition exposes an affected person to a different schedule of life-threatening risks from birth onwards. In the latter case, years of life lost is calculated as the difference in life expectancy at birth for affected and non-affected persons. This reasoning is worked out in algebraic form and then applied to Down's syndrome. The data base is provided by two large and recent studies, one in Massachusetts and the other in Denmark, of mortality rates among all cases of Down's syndrome, whether in an institution or not, born during a given period of years or living at a given point in time in a fixed geographical area. So calculated, years of life lost through Down's syndrome relative to the United States general population in 1970 was 53.6 years per 1000 livebirths. Prenatal mortality is also discussed.

Bronchogenic carcinoma in acquired immunodeficiency syndrome - report of two cases

International Nuclear Information System (INIS)

Siciliano, Antonio Alexandre de Oliveira; Melo, Alessandro Severo Alves de; Marchiori, Edson

1999-01-01

The authors report two cases of bronchogenic carcinoma in patients with acquired immunodeficiency syndrome. The first patient, a ee-year-old male, developed a left hilar adenocarcinoma, with spleen and bilateral adrenal metastases. The disease progressed unfavourably, resulting in the patient's death in less than a month. The second patient, a 47-year-old male, developed a large mass in the left upper lobe, with invasion of the thoracic wall and destruction of adjacent ribs. The histopathologic study revealed a non-oat-cell carcinoma. Both patients received palliative treatment since diagnosis was established late in the course of the disease. Recent studies suggest an association between bronchogenic carcinoma and human immunodeficiency virus infection. However, an actual increase in the prevalence of bronchogenic carcinoma in HIV-positive patients remains controversial. (author)

[Usher syndrome: about a case].

Science.gov (United States)

Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

2017-01-01

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

Tietze's syndrome: case report and literature review | Chuhwak ...

African Journals Online (AJOL)

The case report is on Tietze's syndrome – a disorder that is quite rare. Costochondritis has been thought to be synonymous with Tietze's syndrome until recently [2002] when costochondritis was differentiated from Tietze's syndrome. Costochondritis is inflammation of the costochondral joints without swelling. Tietze's ...

Case Of Iatrogenic Cushing's Syndrome By Topical Triamcinolone.

Science.gov (United States)

Zil-E-Ali, Ahsan; Janjua, Omer Hanif; Latif, Aiza; Aadil, Muhammad

2018-01-01

Cushing's syndrome is a collection of signs and symptoms due to hypercortisolism. Prolong use of topical steroid may cause this syndrome and suppression of hypothalamic and pituitary function, however such events are more common with oral and parenteral route. There are very few cases of Cushing's syndrome with a topical application amongst which triamcinolone is the rarest drug. We report a case of 11-year-old boy is presented who developed Cushing's disease by topical application. The child had body rashes for which the caregiver consulted a local quack, a topical cream of triamcinolone was prescribed. After application for three months, the patient became obese and developed a moon-like face. A thorough biochemical workup and diagnostic test for Cushing's disease was done to confirm. The following case report a dramatic example of development of the syndrome from chronic topical application of the least potent corticosteroid.

Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

Science.gov (United States)

Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

2016-04-01

To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Stylocarotid syndrome: A case report

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Petrović Branko

2008-01-01

Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

Case Report: A Rare Case Report of Frontal Lobe Syndrome

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Morteza Nouri- Khajavi

2003-04-01

Full Text Available The frontal lobe syndrome is a permanent personality change disorder with characteristic clinical pictures, which followed by frontal lobes damage. Clinical picture include: Affective instability, recurrent aggressive behavior, impaired social judgment, apathy and undifferentiating or suspiciousness and paranoid ideations. According DSM-IV classification frontal lobe syndrome named personality change due to head trauma on Axis I. Herein we report a case of 46 years-old man, who has developed behavioral disturbances following head trauma, about 10 years ago. Main clinical figures in this case are apathy, avolition and, undifferentiating. Clinical pictures are constant during these 10 years. The diagnostic approach has been based on patient’s problems history which, has taken from his family, mental status examination, Neurological examination, Brain imaging and Neuropsychological assessments which related to frontal lobes function. Because of rarity & neglection due to mysterious function of frontal lobes, and also considering that personality change from previous level is prominent figure of this syndrome and also brain imaging findings, which compatible with clinical findings, with this aim, we have reported this case.

CLINICAL CASE OF PARKES-WEBER-RUBASHOV SYNDROME

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Zhdonec S. V.

2018-03-01

Full Text Available A clinical case of one variant of congenital venous angiodysplasia – Parkes Weber-Rubashov syndrome of the right lower extremity is presented in the article. The features of its clinical presentation and diagnosis difficulties are described. The analysis of the scientific data and own clinical observation showed that Parkes Weber-Rubashov syndrome belongs to the rare congenital disease of the vascular system, in some cases with the absence of typical clinical manifestations and combination with other disorders of the venous system. The best method for diagnosing the syndrome is radiopaque arteriography. The separation of the patent’s arteriovenous fistulas is justified as a radical method of its surgical treatment.

Alcohol and cause-specific mortality in Russia: a retrospective case-control study of 48,557 adult deaths.

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Zaridze, David; Brennan, Paul; Boreham, Jillian; Boroda, Alex; Karpov, Rostislav; Lazarev, Alexander; Konobeevskaya, Irina; Igitov, Vladimir; Terechova, Tatiana; Boffetta, Paolo; Peto, Richard

2009-06-27

Alcohol is an important determinant of the high and fluctuating adult mortality rates in Russia, but cause-specific detail is lacking. Our case-control study investigated the effects of alcohol consumption on male and female cause-specific mortality. In three Russian industrial cities with typical 1990s mortality patterns (Tomsk, Barnaul, Biysk), the addresses of 60,416 residents who had died at ages 15-74 years in 1990-2001 were visited in 2001-05. Family members were present for 50,066 decedents; for 48,557 (97%), the family gave proxy information on the decedents' past alcohol use and on potentially confounding factors. Cases (n=43,082) were those certified as dying from causes we judged beforehand might be substantially affected by alcohol or tobacco; controls were the other 5475 decedents. Case versus control relative risks (RRs; calculated as odds ratios by confounder-adjusted logistic regression) were calculated in ever-drinkers, defining the reference category by two criteria: usual weekly consumption always less than 0.5 half-litre bottles of vodka (or equivalent in total alcohol content) and maximum consumption of spirits in 1 day always less than 0.5 half-litre bottles. Other ever-drinkers were classified by usual weekly consumption into three categories: less than one, one to less than three, and three or more (mean 5.4 [SD 1.4]) bottles of vodka or equivalent. In men, the three causes accounting for the most alcohol-associated deaths were accidents and violence (RR 5.94, 95% CI 5.35-6.59, in the highest consumption category), alcohol poisoning (21.68, 17.94-26.20), and acute ischaemic heart disease other than myocardial infarction (3.04, 2.73-3.39), which includes some misclassified alcohol poisoning. There were significant excesses of upper aerodigestive tract cancer (3.48, 2.84-4.27) and liver cancer (2.11, 1.64-2.70). Another five disease groups had RRs of more than 3.00 in the highest alcohol category: tuberculosis (4.14, 3.44-4.98), pneumonia (3

CASE REPORT Moebius syndrome with macular hyperpigmentation ...

African Journals Online (AJOL)

Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; ...

Accidental drug deaths in Fulton County, Georgia, 2002: characteristics, case management and certification issues.

Science.gov (United States)

Graham, Jason K; Hanzlick, Randy

2008-09-01

Historically, the duty of the medical examiner in assigning cause and manner of death in drug-related death cases has been fraught with controversial challenges. The lack of standardization in certifying drug-related deaths may involve differences among practicing forensic pathologists in their approach to such cases. The central objectives of the present study include characterization of current drug death patterns and the variability among medical examiners with respect to autopsy performance and death certification practices in one county medical examiner's office. Death certificates, scene information/investigative reports, autopsy reports, and toxicological laboratory results for each of the 100 cases of drug-related death occurring in 2002 in Fulton County, Georgia were reviewed. Comparison of overall autopsy rates and autopsy rates in drug-related death cases for each medical examiner individually and for the group collectively was performed. In examining cocaine-related deaths (most common), statistical analysis was performed for comparison of drug concentrations (cocaine and benzoylecgonine) between deaths certified as cocaine toxicity (poisoning) versus cocaine-complicating disease or causing an adverse event such as cerebral hemorrhage. Causes of accidental drug deaths included cocaine 40%, mixed drug intoxication 37%, opioids 10%, ethanol 7%, and prescription medication (nonopioid) 5%. Overall total autopsy rates in 2002 for each of the 6 independent medical examiners ranged from 51% to 69% (mean 64%), whereas autopsy rates in drug-related death ranged from 55% to 91% (mean 81%). In review of the subset of 40 cocaine-related deaths, 25% were certified as cocaine toxicity (poisoning), with the remaining 75% certified as cocaine-complicating disease or causing and adverse event. Autopsy rates in cocaine-related deaths were as follows: cocaine toxicity 80%, cocaine-complicating disease 77.3%, and cocaine causing adverse event 62.5%. Thirty-eight percent of

Marshall-smith syndrome: case report

International Nuclear Information System (INIS)

Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

2002-01-01

Marshall-smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-smith syndrome is as, for as we know, the first to be published in Korea

Marshall-Smith syndrome: case report

International Nuclear Information System (INIS)

Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

2002-01-01

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea

Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

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Xie Ying

2012-05-01

Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

Seckel syndrome: a report of a case.

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Ramalingam, K; Kaliyamurthy, S D; Govindarajan, M; Swathi, S

2012-01-01

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

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P K Shivaprakash

2012-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

Histopathology of the Inner Ear in a Case With Recent Onset of Cogan's Syndrome: Evidence for Vasculitis.

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Jung, David H; Nadol, Joseph B; Folkerth, Rebecca D; Merola, Joseph F

2016-01-01

The association of sensorineural hearing loss and vertigo with inflammatory eye disease, usually interstitial keratitis, has been called Cogan's syndrome. The pathogenesis of Cogan's syndrome is unknown, but it has been assumed to be an immune mediated disorder with vasculitis. The histopathology of the inner ear in Cogan's syndrome has been described in 6 case reports. Although common pathologic findings in these reports include degeneration of the auditory and vestibular neuroepithelium, endolymphatic hydrops, fibrosis, and new bone formation, direct pathologic evidence of a vasculitis has not been published. A possible reason for this failure to identify vasculitis was a substantial delay (range, 4-40 years) between the onset of symptoms and examination of the otopathology. In the current case report, the patient had both auditory and vestibular symptoms and interstitial keratitis with a time delay of only 2 to 4 weeks between symptoms and death. Evidence of a vasculitis as a possible underlying etiology included H&E histopathology and anti-CD45 immunostaining of vessels both in the auditory and vestibular systems, supporting the hypothesis of a vasculitis as a mechanism in this disorder. © The Author(s) 2015.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

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Shukla Umesh; Yadav Dinesh K; Goyal Deepak; Sethi Sidharth K

2010-01-01

Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic...

Atypical presentation of HELLP syndrome: clinical case report

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Juan Manuel Tobar Parra

2017-12-01

Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

Sjogren’s syndrome: a case report

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Sunata, A.; Marpaung, B.

2018-03-01

The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

Usher's syndrome--case report.

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Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

2008-01-01

The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

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Coffino, Samantha W; Fryer, Robert H

2017-06-01

Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

McGibbon Syndrome: A report of three siblings

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J Maria Rajathi

2013-01-01

Full Text Available Amelogenesis Imperfecta (AI is a collective term for a number of developmental conditions characterized by abnormal enamel formation. Only a few cases of AI have been reported to occur in association with syndromes and metabolic conditions. McGibbon Syndrome or AI and Nephrocalcinosis Syndrome are such disorders with defective enamel and renal calcifications. Early diagnosis of this condition is essential to prevent renal failure and death of the patient.

Esthesioneuroblastoma in Maffucci's syndrome

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Kurian, Sobha; Crowell, Edward B. [West Virginia University, Section of Hematology/Oncology, Department of Medicine, Health Science Center, Morgantown (United States); Ertan, Esmer; Rassekh, Christopher [West Virginia University, Department of Otolaryngology, Morgantown (United States); Ducatman, Barbara [West Virginia University, Department of Pathology, Morgantown (United States)

2004-10-01

Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

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Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

2016-01-01

To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

Malignant arrhythmia as the first manifestation of Wolff-Parkinson-White syndrome: a case with minimal preexcitation on electrocardiography.

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Gungor, B; Alper, A T

2013-09-01

Wolff-Parkinson-White (WPW) syndrome is defined as the presence of an accessory atrioventricular pathway which is manifested as delta waves and short PR interval on electrocardiography (ECG). However, some WPW cases do not have typical findings on ECG and may remain undiagnosed unless palpitations occur. Sudden cardiac death may be the first manifestation of WPW and develops mostly secondary to degeneration of atrial fibrillation into ventricular fibrillation. In this report, we present a case of undiagnosed WPW with minimal preexcitation on ECG and who suffered an episode of malignant arrhythmia as the first manifestation of the disease.

Sudden unexpected death from natural diseases: Fifteen years' experience with 484 cases in Seychelles.

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Zhao, Peng; Wang, Ji-Gang; Gao, Peng; Li, Xia; Brewer, Rubell

2016-01-01

The aim of this study is to identify and subclassify sudden natural death (sudden death from natural diseases) cases in Seychelles. A total of 484 sudden natural death cases with autopsy at the Clinical Pathology Laboratory, Victoria Hospital, Seychelles between 1997 through 2012 were retrospectively reviewed. Among them, 363 cases (75%) were male and 121 (25%) were female. The most frequent sudden deaths were attributed to cardiovascular diseases (78.5%), and then followed by infectious diseases (9.9%), and gastrointestinal diseases (9.1%). This is the largest population-based study on sudden natural deaths in Seychelles. Copyright © 2015 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

A Case of Wolfram Syndrome

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Gholamali Naderian

2010-01-01

Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

Klippel-Trenaunay-Weber Syndrome:A case report

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Ryu, Kyung Nam; Lee, Sun Wha; Yoon, Yup; Lim, Jae Hoon [Kyung Hee University Hopital, Seoul (Korea, Republic of)

1990-10-15

The Klippel-Trenauna-Weber Syndrome is characterized by a classical triad that includes unilateral cutaneous capillary hemangiomas, varicose veins, and local gigantism with both soft tissue and osseous overgrowth. Authors have experience on case of Klippel-Trenaunay-Weber Syndrome with hemangiomas of ipsilateral scrotum and foot.

Facial and Ocular Features of Marfan Syndrome

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Juan C. Leoni

2014-10-01

Full Text Available Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and rupture remains a major cause of death in patients with unrecognized Marfan syndrome. Echocardiography is recommended as the initial imaging test, and once a dilated aortic root is identified magnetic resonance or computed tomography should be done to assess the entire aorta. Prophylactic aortic root replacement is safe and has been demonstrated to improve life expectancy in patients with Marfan syndrome. Medical therapy for Marfan syndrome includes the use of beta blockers in older children and adults with an enlarged aorta. Addition of angiotensin receptor antagonists has been shown to slow the progression of aortic root dilation compared to beta blockers alone. Lifelong and regular follow up in a center for specialized care is important for patients with Marfan syndrome. We present a case of a patient with clinical features of Marfan syndrome and discuss possible therapeutic interventions for her dilated aorta.

Waardenburg syndrome: A report of three cases

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Ghosh Sudip

2010-01-01

Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

Case report: waardenburg syndrome.

Science.gov (United States)

Dumayas, Grace Lea; Capó-Aponte, José E

2015-03-01

A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

Wolfram Syndrome. Case report.

Science.gov (United States)

Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

2016-01-01

Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

Pregnancy and Evans´ syndrome: case report

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Santiago Artucio

2015-12-01

Full Text Available Evans´ syndrome is the coexistence of autoimmune thrombocytopenia with autoimmune hemolytic anemia. It is rarely found during the course of a pregnancy. This makes treatment options more difficult, since some therapeutic drugs are teratogenic. The effects of Evans´ syndrome in the fetus and newborn are unknown given the low number of reported cases. We report the case of a patient with preconceptional diagnosis of Evans´ syndrome, who develops a hemolytic crisis during the course of a pregnancy, and diagnosis of intrauterine growth restriction (IUGR, treated at Clínica Ginecotocológica “A” at the Pereira Rossell Hospital Center, in Montevideo, Uruguay. Treatment options and evolution are analyzed, as well as previous reports.

CROUZON SYNDROME: A CASE REPORT

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Debdas

2015-07-01

Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

Caudal regression syndrome : a case report

International Nuclear Information System (INIS)

Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun

1998-01-01

Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging

Caudal regression syndrome : a case report

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Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun [Chungang Gil Hospital, Incheon (Korea, Republic of)

1998-07-01

Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

Science.gov (United States)

Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

2013-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

Rapunzel syndrome: a rare postpartum case.

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Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

2013-01-01

The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

Comèl-Netherton syndrome – case report

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Izabela Błażewicz

2014-11-01

Full Text Available Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. Objective. We present diagnostic and therapeutic difficulties in a patient with Comèl-Netherton syndrome. Case report. We present the case of a 3-year-old boy, in whom from the first day of life generalized ichthyosiform erythroderma and diffuse exfoliation of the skin were observed. The differential diagnosis included Omenn syndrome, and atopic and seborrheic dermatitis. Finally, based on the overall clinical picture and microscopic examination of the hair, which showed the presence of bamboo hair, Comèl-Netherton syndrome was diagnosed. Conclusions . Because of similarity to other erythroderma, diagnosis of Comèl-Netherton syndrome in the first months of life creates diagnostic problems. In older children, recurrent skin infections and atopic diathesis can cause therapeutic difficulties and require the cooperation of many specialists.

The buccal cytome and micronucleus frequency is substantially altered in Down's syndrome and normal ageing compared to young healthy controls

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Thomas, Philip [CSIRO Human Nutrition, PO Box 10041, Adelaide BC, Adelaide, SA 5000 (Australia); Discipline of Physiology, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA 5005 (Australia)], E-mail: philip.thomas@csiro.au; Harvey, Sarah; Gruner, Tini [Southern Cross University, PO Box 157, Lismore, NSW 2480 (Australia); Fenech, Michael [CSIRO Human Nutrition, PO Box 10041, Adelaide BC, Adelaide, SA 5000 (Australia)], E-mail: michael.fenech@csiro.au

2008-02-01

The buccal micronucleus cytome assay was used to investigate biomarkers for DNA damage, cell death and basal cell frequency in buccal cells of healthy young, healthy old and young Down's syndrome cohorts. With normal ageing a significant increase in cells with micronuclei (P < 0.05, average increase +366%), karyorrhectic cells (P < 0.001, average increase +439%), condensed chromatin cells (P < 0.01, average increase +45.8%) and basal cells (P < 0.001, average increase +233%) is reported relative to young controls. In Down's syndrome we report a significant increase in cells with micronuclei (P < 0.001, average increase +733%) and binucleated cells (P < 0.001, average increase +84.5%) and a significant decrease in condensed chromatin cells (P < 0.01, average decrease -52%), karyolytic cells (P < 0.001, average decrease -51.8%) and pyknotic cells (P < 0.001, average decrease -75.0%) relative to young controls. These changes show distinct differences between the cytome profile of normal ageing relative to that for a premature ageing syndrome, and highlight the diagnostic value of the cytome approach for measuring the profile of cells with DNA damage, cell death and proportion of cells with proliferative potential (i.e., basal cells). Significant correlations amongst cell death biomarkers observed in this study were used to propose a new model of the inter-relationship of cell types scored within the buccal micronucleus cytome assay. This study validates the use of a cytome approach to investigate DNA damage, cell death and cell proliferation in buccal cells with ageing.

Noonan Syndrome and Stroke: A Case Report

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Ebru Nur Mıhçı

2012-03-01

Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance

Noonan Syndrome and Stroke: A Case Report

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Ebru Nur Mıhçı

2012-03-01

Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.

A Classic Case of Basal Cell Nevus Syndrome

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Dattaprasad Dadhe

2015-01-01

Full Text Available The basal cell nevus syndrome is an autosomal dominant inherited condition characterized mainly by basal cell carcinomas, multiple keratinizing odontogenic tumors, and other systemic anomalies. As these manifestations do not alter the patient′s lifestyle, most of the cases are diagnosed through oral abnormalities. A classic case of basal cell nevus syndrome fulfilling almost all the major and minor criteria has been reported here.

Williams-Beuren's Syndrome: A Case Report.

Science.gov (United States)

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Williams-Beuren's Syndrome: A Case Report

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Hassan Zamani

2012-01-01

Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Neonatal Marfan syndrome: Report of two cases.

Science.gov (United States)

Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

2017-07-01

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].

Science.gov (United States)

Ilenčíková, D

2012-01-01

This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous mutations. Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset of colorectal cancers. An accompanying manifestation of the disease are skin spots with diffuse margins and irregular pigmentation reminiscent of Café au lait spots of NF1. This paper reports a case of a family with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri, T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review of brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Therefore, this work highlights the importance of early identification of patients with CMMR-D syndrome - in terms of initiation of a screening program for early detection of malignancies as well as early surgical intervention.

Breast Cancer in Cowden Syndrome: A Case Report

International Nuclear Information System (INIS)

Jung, Mi Hee

2009-01-01

Cowden syndrome is rare condition with characteristic multiple hamartoma and mucocutaneous lesions. It is important for radiologists to be aware of Cowden syndrome because the patients with this disease have an increased risk for the occurrence of breast cancer. We report here on a case of invasive breast cancer in a 36-year-old female patient with Cowden syndrome

A Case Report of Gorlin-goltz Syndrome

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Shima Nafarzadeh

2016-04-01

Full Text Available Nevoid basal cell carcinoma syndrome (Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts.

Seckel syndrome: A report of a case

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K Ramalingam

2012-01-01

Full Text Available Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000, genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia, and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

Non-Syndromic Oligodontia in permanent dentition: A case report ...

African Journals Online (AJOL)

of a syndrome. The present case report highlights a unique case of non syndromic oligodontia, with agenesis of four permanent incisors, left permanent canine and right second premolar in the mandibular arch and its management with a novel fixed functional prosthetic appliance. Prosthetic rehabilitation is an urgent need ...

Relationship between autonomic cardiovascular control, case definition, clinical symptoms, and functional disability in adolescent chronic fatigue syndrome: an exploratory study.

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Wyller, Vegard B; Helland, Ingrid B

2013-02-07

Chronic Fatigue Syndrome (CFS) is characterized by severe impairment and multiple symptoms. Autonomic dysregulation has been demonstrated in several studies. We aimed at exploring the relationship between indices of autonomic cardiovascular control, the case definition from Centers for Disease Control and Prevention (CDC criteria), important clinical symptoms, and disability in adolescent chronic fatigue syndrome. 38 CFS patients aged 12-18 years were recruited according to a wide case definition (ie. not requiring accompanying symptoms) and subjected to head-up tilt test (HUT) and a questionnaire. The relationships between variables were explored with multiple linear regression analyses. In the final models, disability was positively associated with symptoms of cognitive impairments (p<0.001), hypersensitivity (p<0.001), fatigue (p=0.003) and age (p=0.007). Symptoms of cognitive impairments were associated with age (p=0.002), heart rate (HR) at baseline (p=0.01), and HR response during HUT (p=0.02). Hypersensitivity was associated with HR response during HUT (p=0.001), high-frequency variability of heart rate (HF-RRI) at baseline (p=0.05), and adherence to the CDC criteria (p=0.005). Fatigue was associated with gender (p=0.007) and adherence to the CDC criteria (p=0.04). In conclusion, a) The disability of CFS patients is not only related to fatigue but to other symptoms as well; b) Altered cardiovascular autonomic control is associated with certain symptoms; c) The CDC criteria are poorly associated with disability, symptoms, and indices of altered autonomic nervous activity.

76 FR 8666 - Substitution in Case of Death of Claimant

Science.gov (United States)

2011-02-15

... DEPARTMENT OF VETERANS AFFAIRS 38 CFR Parts 3, 14, 20 RIN 2900-AN91 Substitution in Case of Death... Veterans Affairs (VA) proposes to amend its regulations concerning adjudication of claims, representation..., not later than one year after the death of the claimant, request to be substituted for the claimant...

Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

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Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

2017-05-01

Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

Paraneoplastic cushing syndrome due to wilm's tumor

International Nuclear Information System (INIS)

Faizan, M.; Anwar, S.; Hameed, A.; Manzoor, J.; Saleem, M.; Mehmood, Q.; Ali, A. S.

2017-01-01

Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, alongwith histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed. (author)

KAROSHI (WORK TO DEATH

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Moh. Toriqul Chaer

2017-05-01

Full Text Available When the tide of unemployment hit the USA and Europe, in Japan the opposite phenomenon occurs. In 2002, in Japan deaths were recorded because of excessive works. In this country, the phenomenon of death because of excessive works is called Karoshi. Karoshi is common in Japan.  It becomes deadly syndrome as a consequence of long hours works. The debate about deaths from excessive work already sticking out in Japan since the 70s. The first official case of Karoshi was reported in 1969 when a 29-year-old male worker died because of stroke. It is estimated over ten thousand workers died each year due to death by brain and stroke caused by an overload work. Karoshi often happen to male workers dominantly. The main cause of karoshi is stress due to high pressure in the work environment, and work habits of exceeding a  standard of normal working time (8 hours. In addition, their extra time to work is imbalance with and the salary they earn. In its development, the phenomenon of karoshi contributes to the term salaryman and workaholic.

[Relieving pre-exam anxiety syndrome with wrist-ankle acupuncture: a randomized controlled trial].

Science.gov (United States)

Shu, Shi; Li, Tong-ming; Fang, Fan-fu; He, Hou-luo; Zhou, Qing-hui; Gu, Wei; Zhou, Shuang

2011-06-01

Pre-exam anxiety syndrome is a common condition occurring in pre-exam students and directly affects their examination performance and physical state. Wrist-ankle acupuncture has significant therapeutic effects in treating mental disorders and may also relieve the symptoms of pre-exam anxiety syndrome. To assess the therapeutic effect of wrist-ankle acupuncture on pre-exam anxiety syndrome. A total of 60 students who met the inclusion criteria of pre-exam anxiety syndrome were enrolled from a university in Shanghai and they were randomly divided into treatment group and control group. There were 30 cases in each group, and no case failed to follow-up. In the treatment group, wrist-ankle acupuncture was adopted to point upper 1 bilaterally (impression between flexor carpi ulnaris tendon and ulnar margin), and there was no requirement for Deqi (arrival of qi). In the control group, sham acupuncture was adopted. The treatment was applied 3 times totally in both groups one week before the exam, once every other day, each time with the needles retained for 30 min. The therapeutic effects were compared between two groups. Before and after 3 treatments, Sarason Test Anxiety Scale (TAS) and Expectation and Treatment Credibility Scale (ETCS) were measured and evaluated. The therapeutic effect experienced by the treatment group was better than that of the control group (PETCS before treatment between the two groups. The scores of TAS after treatment in two groups were higher than those before treatment (PETCS than those in the control group (P<0.05, P<0.01). No adverse reaction was reported. Wrist-ankle acupuncture can relieve the symptoms of pre-exam anxiety syndrome significantly, and this therapy is highly safe.

Mining for Murder-Suicide: An Approach to Identifying Cases of Murder-Suicide in the National Violent Death Reporting System Restricted Access Database.

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McNally, Matthew R; Patton, Christina L; Fremouw, William J

2016-01-01

The National Violent Death Reporting System (NVDRS) is a United States Centers for Disease Control and Prevention (CDC) database of violent deaths from 2003 to the present. The NVDRS collects information from 32 states on several types of violent deaths, including suicides, homicides, homicides followed by suicides, and deaths resulting from child maltreatment or intimate partner violence, as well as legal intervention and accidental firearm deaths. Despite the availability of data from police narratives, medical examiner reports, and other sources, reliably finding the cases of murder-suicide in the NVDRS has proven problematic due to the lack of a unique code for murder-suicide incidents and outdated descriptions of case-finding procedures from previous researchers. By providing a description of the methods used to access to the NVDRS and coding procedures used to decipher these data, the authors seek to assist future researchers in correctly identifying cases of murder-suicide deaths while avoiding false positives. © 2015 American Academy of Forensic Sciences.

Cluster of cases of severe acute respiratory syndrome among Toronto healthcare workers after implementation of infection control precautions: a case series.

Science.gov (United States)

Ofner-Agostini, Marianna; Gravel, Denise; McDonald, L Clifford; Lem, Marcus; Sarwal, Shelley; McGeer, Allison; Green, Karen; Vearncombe, Mary; Roth, Virginia; Paton, Shirley; Loeb, Mark; Simor, Andrew

2006-05-01

To review the severe acute respiratory syndrome (SARS) infection control practices, the types of exposure to patients with SARS, and the activities associated with treatment of such patients among healthcare workers (HCWs) who developed SARS in Toronto, Canada, after SARS-specific infection control precautions had been implemented. A retrospective review of work logs and patient assignments, detailed review of medical records of patients with SARS, and comprehensive telephone-based interviews of HCWs who met the case definition for SARS after implementation of infection control precautions. Seventeen HCWs from 6 hospitals developed disease that met the case definition for SARS after implementation of infection control precautions. These HCWs had a mean age (+/-SD) of 39+/-2.3 years. Two HCWs were not interviewed because of illness. Of the remaining 15, only 9 (60%) reported that they had received formal infection control training. Thirteen HCWs (87%) were unsure of proper order in which personal protective equipment should be donned and doffed. Six HCWs (40%) reused items (eg, stethoscopes, goggles, and cleaning equipment) elsewhere on the ward after initial use in a room in which a patient with SARS was staying. Use of masks, gowns, gloves, and eyewear was inconsistent among HCWs. Eight (54%) reported that they were aware of a breach in infection control precautions. HCWs reported fatigue due to an increased number and length of shifts; participants worked a median of 10 shifts during the 10 days before onset of symptoms. Seven HCWs were involved in the intubation of a patient with SARS. One HCW died, and the remaining 16 recovered. Multiple factors were likely responsible for SARS in these HCWs, including the performance of high-risk patient care procedures, inconsistent use of personal protective equipment, fatigue, and lack of adequate infection control training.

Kabuki Syndrome: a case report with severe ocular abnormalities

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Flavio Mac Cord Medina

2013-10-01

Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

International Nuclear Information System (INIS)

Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

1997-01-01

Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

Distinct mortality profile in systemic sclerosis: a death certificate study in Rio de Janeiro, Brazil (2006-2015) using a multiple causes of death analysis.

Science.gov (United States)

de Rezende, Rodrigo Poubel Vieira; Gismondi, Ronaldo Altenburg; Maleh, Haim Cesar; de Miranda Coelho, Elisa Mendes; Vieira, Carol Sartori; Rosa, Maria Luiza Garcia; Mocarzel, Luis Otavio

2017-12-16

The objective of this study was to assess the mortality profile related to SSc in the state of Rio de Janeiro, Brazil. We retrospectively examined all registered deaths in the region (2006-2015 period) in which the diagnosis of SSc was mentioned on any line of the death certificates (underlying cause of death [UCD], n = 223; non-UCD, n = 151). Besides the analysis of gender, age, and the causes of death, we also compared the mortality from UCDs between individuals whose death causes included SSc (cases) and those whose death causes did not include SSc (deceased controls). For the latter comparison, we used the mortality odds ratio to approximate the cause-specific standardized mortality ratio. We identified 1495 death causes among the 374 SSc cases. The mean age at death of the SSc cases (85% women) was significantly lower than that of the controls (n = 1,294,117) (58.7 vs. 65.5 years, respectively). The main death causes were circulatory system diseases, infections, and respiratory diseases (36%, 34%, and 21% of SSc cases, respectively). Compared to the deceased controls, there were proportionally more deaths among the SSc cases from pulmonary arterial hypertension, lung fibrosis, septicemia, gastrointestinal hemorrhage, other systemic connective tissue diseases, and heart failure (for death age causes in this predominantly non-Caucasian sample of SSc patients. Of interest, the percentage of infection-related deaths in our report was about three times higher than that in SSc studies with predominantly Caucasian populations.

[Toxic-shock syndrome. Three cases (author's transl)].

Science.gov (United States)

Rapin, M; D'Enfert, J; Cabane, J

1981-06-13

Several cases of toxic shock syndrome (T.S.S) have been recently reported from the U.S.A. Clinical features of this new syndrome include fever, desquamative scarlatiniform rash, hypotension and involvement of central nervous system, liver, kidney and muscles. More than 90% of cases are women with staphylococcic vaginitis using tampons during menstruations. A toxin produced by staphylococcus aureus is thought to be the causative agent, because the germ has been isolated in local (vaginal, pharyngeal, subcutaneous or other sites) but not systemic (blood, cerebrospinal fluid) cultures. The mortality rate is 3-10%, and relapse can occur. We report the first three french cases of T.S.S.: a 17 year old girl with typical tampon-associated vaginitis, a 36 year old woman with a postoperative peritonitis and a 20 year old man with a popliteal abscess. Staphylococcus aureus of type I or IV was identified at the site of infection in all cases, but never in blood cultures. These three patients recovered with antistaphylococcic antibiotics and supportive therapy, but local treatment of infections seems to have been of utmost importance. These cases suggest that T.S.S. can occur with several staphylococcus serotypes and confirm that this syndrome is not always associated with tampons and vaginitis.

Two Cases of. Cushing's Syndrome tumour and bilateral hyperplasia

African Journals Online (AJOL)

Two patients, one with Cushing's syndrome and one with Cushing's disease, are presented. In the first case the syndrome was caused by a tumour of the right suprarenal gland which was treated by unilateral adrenalectomy, and the second case was diagnosed as hyperplasia of the left suprarenal gland, eventually leading ...

A Case of Pasqualini Syndrome

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P.M. Liashuk

2016-05-01

Full Text Available The article presents a case of isolated congenital deficiency of luteinizing hormone (Pasqualini syndrome that manifested by secondary hypogonadism with abnormalities of copulative and fertile functions, which were normalized after the treatment using chorionic gonadotropin.

The importance of a forensics investigation of sudden infant death syndrome: recommendations for developing, low and middle income countries

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Steven A. Koehler

2010-11-01

Full Text Available Sudden infant deaths syndrome (SIDS, the sudden and unexpected death of a normal and healthy infant, has remained a medical and forensic mystery. Despite years of research all attempts to ascertain the exact cause and manner of death have failed. The information collected during the course of the comprehensive investigation by the various investigation agencies and analysis of the data has not been in vain. The epidemiological, demographic, and pathological data have identified distinctive features and risk factors associated with infants that died from SIDS. Epidemiological data has provided the unique characteristics of infants that died of SIDS that differentiates them from non-SIDS infants. Analysis of information from the death scene investigation has identified key risk factor behaviour associated with SIDS, namely the prone sleeping position. Pathological examination of the internal organs, specifically the brain, has shown some differences between SIDS and non-SIDS infants. However, to gain a complete picture of SIDS data, all countries around the world must provide information, even basic information, to understand this syndrome better. Developing countries must understand their role and importance in developing plans to investigate, collect, and disseminate SIDS data to the rest of the world. This paper provides general guidelines for the investigation of SIDS in developing countries.

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

OpenAIRE

Fernández Falgueras, Anna; Sarquella Brugada, Georgia; Brugada Terradellas, Josep; Brugada, Ramon; Campuzano Larrea, Oscar

2017-01-01

Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, a...

PLATEAU IRIS SYNDROME--CASE SERIES.

Science.gov (United States)

Feraru, Crenguta Ioana; Pantalon, Anca Delia; Chiselita, Dorin; Branisteanu, Daniel

2015-01-01

Plateau iris is characterized by closing the anterior chamber angle due to a large ciliary body or due to its anterior insertion that alters the position of iris periphery in respect to the trabecular meshwork. There are two aspects that need to be differentiated: plateau iris configuration and plateau iris syndrome. The first describes a situation when the iris root is flat and the anterior chamber is not shallow, the latter refers to a post laser iridotomy condition in which a patent iridotomy has removed the relative pupillary block, but goniscopically confirmed angle closure recurs without central shallowing of the anterior chamber. Isolated plateau iris syndrome is rare compared to plateau iris configuration. We hereby present two case reports of plateau iris syndrome in young patients who came to an ophthalmologic consult by chance.

Guillain-Barre syndrome associated with hemorrhagic fever with renal syndrome in China: a case report.

Science.gov (United States)

Jiao, Jie; Wu, Lei; Yin, Jianyuan; Quan, Xiaojiao; Chen, Wei; Hu, Jie

2018-03-27

We describe a case of Guillain-Barre syndrome (GBS) associated with hemorrhagic fever with renal syndrome. To our knowledge, only five cases of GBS associated with Hantavirus infection have been reported so far. A 62-year-old man presented intermittent fever, chill and oliguria. According to remarkable leukocytosis, atypical lymphocytes, thrombocytopenia and former dwelling in hemorrhagic fever-endemic area, he was suspected as hemorrhagic fever with renal syndromeand certified with positive Hantavirus IgG. Later, the patient had symmetrical flaccid paralysis of all extremities. Electromyography showed peripheral nerve injury (mainly in axon). The patient was diagnosed as having acute motor sensory axonal neuropathy (AMSAN). After immunoglobulin infusion, patient showed progressive recovery and was transferred 3 weeks after his first admission to a rehabilitation center. Our case was the 6th reported case of GBS associated with hemorrhagic fever with renal syndrome. Moreover, we for the first time classified the subtype of GBS (AMSAN) based on the electrophysiology characteristics. GBS should be suspected in patients who are already diagnosed as hemorrhagic fever with renal syndrome when delayed symmetrical limb paralysis occurs. Until recent now, GBS was only reported in hemorrhagic fever patients in Europe and Asia, which termed as hemorrhagic fever with renal syndrome.

Prader-Willi syndrome: a case report with atypical developmental features.

Science.gov (United States)

Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

2014-09-01

To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention

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Daniel H. De La Iglesia

2018-03-01

Full Text Available Context-aware monitoring systems designed for e-Health solutions and ambient assisted living (AAL play an important role in today’s personalized health-care services. The majority of these systems are intended for the monitoring of patients’ vital signs by means of bio-sensors. At present, there are very few systems that monitor environmental conditions and air quality in the homes of users. A home’s environmental conditions can have a significant influence on the state of the health of its residents. Monitoring the environment is the key to preventing possible diseases caused by conditions that do not favor health. This paper presents a context-aware system that monitors air quality to prevent a specific health problem at home. The aim of this system is to reduce the incidence of the Sudden Infant Death Syndrome, which is triggered mainly by environmental factors. In the conducted case study, the system monitored the state of the neonate and the quality of air while it was asleep. The designed proposal is characterized by its low cost and non-intrusive nature. The results are promising.

Burning mouth syndrome and associated factors: A case-control retrospective study.

Science.gov (United States)

Chimenos-Küstner, Eduardo; de Luca-Monasterios, Fiorella; Schemel-Suárez, Mayra; Rodríguez de Rivera-Campillo, María E; Pérez-Pérez, Alejandro M; López-López, José

2017-02-23

Burning mouth syndrome (BMS) can be defined as burning pain or dysesthesia on the tongue and/or other sites of the oral mucosa without a causative identifiable lesion. The discomfort is usually of daily recurrence, with a higher incidence among people aged 50 to 60 years, affecting mostly the female sex and diminishing their quality of life. The aim of this study was to evaluate the association between several pathogenic factors and burning mouth syndrome. 736 medical records of patients diagnosed of burning mouth syndrome and 132 medical records for the control group were studied retrospectively. The study time span was from January 1990 to December 2014. The protocol included: sex, age, type of oral discomfort and location, among other factors. Analysis of the association between pathogenic factors and BMS diagnosis revealed that only 3 factors showed a statistically significant association: triggers (P=.003), parafunctional habits (P=.006), and oral hygiene (P=.012). There were neither statistically significant differences in BMS incidence between sex groups (P=.408) nor association of BMS with the pathogenic factors of substance abuse (P=.915), systemic pathology (P=.685), and dietary habits (P=.904). Parafunctional habits like bruxism and abnormal movements of tongue and lips can explain the BMS main symptomatology. Psychological aspects and systemic factors should be always considered. As a multifactorial disorder, the treatment of BMS should be executed in a holistic way. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

[What Lessons Should We Learn from the Death of Patients on Xeplion?].

Science.gov (United States)

Fujii, Yasuo

2015-01-01

From the launch of the long-acting injectable antipsychotic paliperidone palmitate (XEPLION) on November 19, 2013, 32 fatal cases had been reported up to May 18, 2014 (estimated number of users is approximately 11,000 patients) in the Early Post-marketing Phase Vigilance. The most common cause of death was sudden death (12 cases were sudden death defined by ICD-10 codes 96.0 and 96.1 and 4 cases suspected sudden death), followed by suicide (7 cases), and neuroleptic malignant syndrome (4 cases). Several deaths occurred involving patients with serious somatic disorder, such as a malignant tumor or pneumonia. The risk of all-cause mortality on XEPLION was not high in comparison with other investigations; the sudden death risk on XEPLION may be higher than on ZODIAC. According to many reports from foreign countries, mortality rates associated with schizophrenia are two to three times higher than those of the general population, corresponding to a 10-25-year reduction in life expectancy. Natural deaths account for about 60% of the excess mortality of schizophrenia patients, and such patients are more likely to die from ischemic heart disease. Since it has been suggested that more than half of sudden deaths in schizophrenic patients have a cardiac origin, sudden cardiac deaths are chiefly responsible for their reduced life expectancy. This sudden death-related problem of patients with schizophrenia has been forgotten or ignored in the psychiatric care of Japan. Taking advantage of this opportunity, we should tackle this problem seriously, and make an effort to reduce the mortality gap.

Rapunzel Syndrome: A Rare Postpartum Case

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Teshome Tegene

2013-01-01

Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

A Case with Cramp-Fasciculation Syndrome

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Pinar Yalinay Dikmen

2014-12-01

Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

A case Report of Wolfram Syndrome

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Zahra Razavi

2007-01-01

Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

Autoerythrocyte Sensitization Syndrome: A Case Report

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Pinar Ozuguz

2014-04-01

Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

Nevoid Basal Cell Carcinoma Syndrome : A Case Report

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K Rajanikanth

2004-01-01

Full Text Available The nevoid basal cell carcinoma syndrome (NBCCS or Gorlin - Goltz syndrome is an autosomal disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The major organ systems involved are skin, bones, central nervous system, eyes, gonads and endocrine. This particular syndrome is extensively described in the literature under different names. However, there are only few cases reported in the Indian literature. An unusual case of a 33-year old male with large odontogenic keratocyst involving impacted canine in the mandible, along with multiple cysts and impacted teeth in the maxilla; bifid rib and vertebral anomalies has been described.

Diagnosis of 20 cases with chronic radiation syndrome

International Nuclear Information System (INIS)

Zhang, Hongshou; Shen, Zhezhong; Wen Zhigen; Xie, Xiaoping; Ni, Jinxian

1984-01-01

Twenty cases with chronic radiation syndrome were diagnosed in our department during 1957-1980. All except one were radiologists, and eight of them had worked in radiological departments for over 20 years. Owing to the use of out-dated x-ray machines as well as radium sources without adequate protection, all these cases were apparently overexposed to radiation. They presented following signs and symptoms of chronic radiation syndrome: excitability, palpitation, fatigue, general weakness, loss of weight, oversweating accompanied by tendency of lowered metabolism, peripheral blood cell changes, and chromosome aberrations. The diagnosis of this syndrome was based on definitive professional and over-exposure history, clinical picture and abnormal laboratory findings. (author)

Effects of environmental factors on child survival in Bangladesh: a case control study.

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Hoque, B A; Chakraborty, J; Chowdhury, J T; Chowdhury, U K; Ali, M; el Arifeen, S; Sack, R B

1999-03-01

The need for further studies on relationships between deaths and environmental variables has been reported in the literature. This case-control study was, therefore, carried out to find out the associations between several social and environmental variables and deaths of children due to infectious diseases such as those leading to diarrhoea, acute respiratory infection, measles and other diseases. Six hundred and twenty-five deaths (cases) and an equal number of matched living children (controls) aged 1-59 months, were studied in rural Matlab. An analysis of crude and adjusted odds ratio showed differential associations. Sources of drinking water, amount of stored water, conditions of latrines, number of persons sleeping with the child and the type of cooking site were statistically significantly associated with deaths due to infectious diseases after controlling for breast feeding, immunization, and the family size. Significant associations were also observed between: (i) the sources of drinking water and deaths due to ARI, and (ii) conditions of latrines and deaths due to diarrhoeal diseases, after controlling for the confounding variables. Several other environmental factors also showed associations with these various death groups, but they were not statistically significant. The size of the samples in death groups (small) and the prevalence of more or less homogeneous environmental health conditions probably diminished the magnitude of the effects. The results of the study reconfirm the importance of environmental health intervention in child survival, irrespective of breast-feeding, immunization, and selected social variables.

Long-term mortality and causes of death in endoscopically verified upper gastrointestinal bleeding: comparison of bleeding patients and population controls.

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Miilunpohja, S; Jyrkkä, J; Kärkkäinen, J M; Kastarinen, H; Heikkinen, M; Paajanen, H; Rantanen, T; Hartikainen, Jek

2017-11-01

Upper gastrointestinal bleeding (UGIB) is a common emergency, with in-hospital mortality between 3 and 14%. However, the long-term mortality and causes of death are unknown. We investigated the long-term mortality and causes of death in UGIB patients in a retrospective single-centre case-control study design. A total of 569 consecutive patients, aged ≥18 years, admitted to Kuopio University Hospital for their first endoscopically verified UGIB during the years 2009-2011 were identified from hospital records. For each UGIB patient, an age, sex and hospital district matched control patient was identified from the Statistics Finland database. Data on endoscopy procedures, laboratory values, comorbidities and medication were obtained from patient records. Data on deaths and causes of death were obtained from Statistics Finland. In-hospital mortality of UGIB patients was low at 3.3%. The long-term (mean follow-up 32 months) mortality of UGIB patients was significantly higher than controls (34.1 versus 12.1%, p death compared to controls was highest (HR 19.2, 95% CI 7.0-52.4, p causes of death were related to comorbidities and did not differ from causes of death in controls. UGIB patients have three times higher long-term mortality than population controls.

Neuromyelitis optica in pregnancy complicated by posterior reversible encephalopathy syndrome, eclampsia and fetal death.

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Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha

2015-03-01

Neuromyelitis optica (NMO) is a demyelinating syndrome characterized by optic neuritis and acute myelitis with poor recovery and a progressive course. We report a poor outcome complicated by posterior reversible encephalopathy syndrome (PRES) and eclampsia and review available literature and current evidence for anticipation of adverse fetal and maternal effects. After a pregnancy complicated by multiple admissions for painful NMO exacerbations, a primiparous patient with seropositive NMO presented at 31 + 3/7 weeks with eclampsia, HELLP and subsequent fetal death. MRI confirmed PRES. NMO may be associated with eclampsia and leads to adverse maternal and fetal outcomes. Posited mechanisms include antibody-mediated placental damage and a heightened risk of eclampsia-associated PRES. Further characterization of the course of NMO and its relationship with pregnancy outcomes in larger series would be invaluable.

Divorce and Death: A Case Study for Health Psychology.

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Sbarra, David A; Hasselmo, Karen; Nojopranoto, Widyasita

2012-12-01

Marital separation and divorce are associated with increased risk for early death, and the magnitude of this association rivals that of many well-established public health factors. In the case of divorce, however, the mechanisms explaining precisely why and how some people are at risk for early death remain unclear. This paper reviews what is known about the association between divorce and risk for all-cause mortality, then discusses four emerging themes in this area of research: the biological intermediaries linking divorce to pathophysiology and disease onset, moving beyond the statistical mean, focusing research on the diathesis-stress model, and studying how opportunity foreclosures may place people on a trajectory toward poor distal health outcomes. These ideas are grounded in a set of public lay commentaries about the association between divorce and death; in this way, the paper seeks to integrate current research ideas with how the general public thinks about divorce and its correlates. Although this paper focuses on divorce, many of the emerging themes are applicable to the study of psychosocial stress and health more generally. Therefore, the study of divorce and death provides a good case study for health psychology and considers new questions that can be pursued in a variety of research areas.

Hermansky-Pudlak Syndrome: A Case Report

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Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep

2014-01-01

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems. PMID:24707413

Hermansky-Pudlak Syndrome: A Case Report

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Ilhami Berber

2014-01-01

Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

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Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

[Report of a case with Joubert syndrome and literature review].

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Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

2011-12-01

To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

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Irene Berges-Raso

2017-09-01

Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

Infantile ictal apneas in a child with williams-beuren syndrome.

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Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

2013-02-01

Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

Gorlin-Goltz syndrome: A series of three cases.