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Kraoua Ichraf - - 2013
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder of serine biosynthesis. It is typically characterized by congenital microcephaly, intractable seizures of infantile onset, and severe psychomotor retardation. Diagnosis is suspected on decreased l-serine levels in plasma and cerebrospinal fluid (CSF) and confirmed by genetic study. Early diagnosis in ...
Viard Brice - - 2013
Clavicle duplication is a rare anatomical variation of the scapular belt: only seven cases have been reported in the literature to date, and only one took note of the existence of a duplication of the acromioclavicular joint. Two hypotheses have been proposed to interpret this variation: genetic factors, or trauma ...
Abraham Mohan K - - 2013
A rare association of horseshoe kidney with pyelic fusion with crossed single ureter along with a rare unusual variant of complete urethral duplication is described. We review the available literature on this rare association and present its management.
Béna Frédérique - - 2013
This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the ...
Harvey Omar R - - 2013
This correspondence addresses comments made by Wiegers et al. in reference to Harvey, O. R.;Qafoku, N. P.; Cantrell, K. J.; Lee, G.; Amonette, J. E.; Brown, C. F. Geochemical Implications of Gas Leakage associated with Geologic CO2 Storage-A Qualitative Review. Environ. Sci. Technol. 2013, 47 (1), 23-36.
Purkait Radheshyam - - 2013
Hemophilic pseudotumors are rare but dangerous complications of Hemophilia. We hereby report a 3-year-old boy with Hemophilia B, presenting with nasal pseudotumor, showing favorable response to radiotherapy after unsuccessful treatment with factor IX replacement therapy. The diagnosis and treatment of this rare condition is also reviewed.
Dumoulin Elaine - - 2013
Idiopathic subglottic stenosis is a narrowing of the trachea at the level of the cricoid cartilage of unknown etiology. It is a rare condition for which the real incidence has never been established owing to the difficulty of making the diagnosis. Although there is a female preponderance, no familial cases ...
Martenies Sheena E - - 2013
Of continuing concern are the associations between environmental or occupational exposures to pesticides and semen quality parameters. Prior research has indicated that there may be associations between exposure to pesticides of a variety of classes and decreased sperm health. The intent of this review was to summarize the most recent ...
Creese Byron - - 2013
Background/Aims: Cognitive impairment is a well-established correlate of psychotic symptoms in Alzheimer's disease (AD-P). We review whether this relationship has confounded previous genetic association studies of 5HTTLPR and AD-P. Methods: We reviewed all studies on 5HTTLPR and conducted a semi-quantitative analysis. Results: Three out of 4 studies with low MMSE ...
Sebastian Alphy A - - 2013
Hutchinson-Gilford progeria syndrome is a rare autosomal dominant disorder associated with skin fragility. It is characterized by craniofacial disproportion, delayed dentition, micrognathia, and plucked bird appearance. The genetic defect is mainly de nova mutation in the lamin A gene. This report describes a 16-year-old patient with classical features of progeria ...
Tubbs R Shane - - 2013
Disruption or embryologic derailment of the normal bony architecture of the craniovertebral junction (CVJ) may result in symptoms. As studies of the embryology and pathology of hypoplasia of the occipital condyles and third occipital condyles are lacking in the literature, the present review was performed. Standard search engines were accessed ...
Steinberg Daniel - - 2013
Even though it has been recognized for some time that the lesions of atherosclerosis begin in childhood, there has been reluctance to recommend intervention, especially intervention with drugs, before the age of 50 years. Recent evidence, particularly evidence from human genetics, has greatly strengthened the case for earlier intervention to correct ...
Park Kio - - 2013
Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of ...
Matikas Alexios - - 2013
The 8p11 myeloproliferative syndrome is a rare atypical disorder defined by the presence of rearrangements between the fibroblast growth factor receptor 1 (FGFR1) and 1 of 13 partner genes described to date, including the BCR gene on chromosome 22. The disease characterised by the BCR-FGFR1 fusion gene has distinct biological ...
Kundal Vijay Kumar - - 2013
Infantile hypertrophic pyloric stenosis (IHPS) is a common surgical cause of vomiting, which requires surgery in infant. There is the complete or partial obstruction of pylorus due to hypertrophy of circular muscle of the pylorus leading gastric outlet obstruction. The occurrence of IHPS in dizygotic twins is rarer and the ...
Borisow Nadja - - 2013
We report a 55-year-old patient, presenting with paresis, muscle atrophy and dysarthria, all symptoms accordable to definite amyotrophic lateral sclerosis (ALS). However, MRI and cerebrospinal fluid show abnormalities typical of multiple sclerosis (MS). On the basis of this case report, we discuss possible overlaps between both diseases by comparing clinical ...
Marinho Falcão Gondim Roberta - - 2013
Pterygium inversum unguis is a rare but not exceptional dermatological condition, with few descriptions in literature. It occurs more frequently in females and may be associated with several clinical conditions. About 50% of cases are concurrent with collagen diseases such as systemic lupus erythematosus and scleroderma. Severe cases are accompanied ...
Kai Anneke C - - 2013
We describe the case of 18 year old twin brothers who presented to our unit with a 3 year history of aquagenic urticaria. This rare form of urticaria usually presents within an hour of contact with water. The aetiology is unknown. Most cases are sporadic but there are a small ...
Cortbaoui Chawki - - 2013
Ossification of the Achilles tendon (OTA) is an unusual clinical condition. It is characterized by the presence of an ossified mass within the fibrocartilaginous substance of the Achilles tendon. The etiology of the ossification of the Achilles tendon is unknown. Review of the literature suggests that its etiology is multifactorial. ...
Chen Shengdi - - 2013
The editors of Translational Neurodegeneration would like to thank all our reviewers who have contributed to the journal in Volume 1 (2012).
Leung Siu-Wai - - 2013
The editors of Chinese Medicine would like to thank all our reviewers who have contributed to the journal in Volume 7 (2012).
Baruah Prabahita - - 2013
Limb body wall complex (LBWC) is a rare clinicopathological entity, characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. A stillborn baby of LBWC with placentoabdominal phenotype is reported here. Kyphoscoliosis, sacrococcygeal mass and agenesis of external genitalia are the associated ...
Kilari Deepak D Division of Hematology/Oncology, University of Rochester, Wilmot Cancer Center, Rochester, NY, - - 2013
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal syndrome characterized by a non-malignant expansion of the macrophage population in the setting of a heightened cytokine response with subsequent widespread hemophagocytosis. It can occur as either genetic or acquired forms; the latter of which frequently occurs in the setting of infection, autoimmune ...
Linhares Paulo P Department of Neurosurgery, Hospital S. João, Porto, Portugal ; Medical Faculty of Porto University, Porto, - - 2013
The simultaneous occurrence of multiple intracranial neoplasms has been reported, especially in genetic familial syndromes and after cranial irradiation. In the absence of these etiologic factors, some reports showed simultaneous occurrence of glioblastoma and meningioma but the association between gliosarcoma and meningioma is unknown. We report a case of a ...
Chelimilla Haritha H Division of Gastroenterology, Department of Medicine, Bronx Lebanon Hospital Center, Affiliated with Albert Einstein College of Medicine, Bronx, N.Y., - - 2013
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and neurofibromatosis type 2 (NF2). NF1 is by far the most common presentation and is caused by an autosomal dominant mutation ...
Hasan Tabinda - - 2013
The human skull is a complex structure, which at birth is made up of 44 separate bony elements. Gross skull morphology and variations occurring in its important foramina (anomalous presence, absence, agenesis or multiplication) represent an interesting field of research, in order to achieve better comprehension of the embryological development ...
Griessenauer Christoph J - - 2012
INTRODUCTION: Enlarged parietal foramina are variable ossification defects in the parietal bones that present as symmetric radiolucencies on skull radiographs. In contrast to the normal small parietal foramina, enlarged parietal foramina are a hereditary condition and genes associated with it have been identified. METHODS: A literature review was performed to ...
Vintzileos Anthony M - - 2012
Abstract OBJECTIVE: To assess the role of the referees in assisting with the peer review process of systematic reviews and meta-analyses. STUDY DESIGN: A one-page questionnaire was mailed to 1,391 referees of two journals, the American Journal of Obstetrics and Gynecology and Obstetrics and Gynecology. The referees were asked how ...
Phillips Lawrence H - - 2012
As we complete another volume of the journal, it is again time to express my gratitude to all of the individuals who have volunteered their time and expertise to serve as peer reviewers. These colleagues have reviewed papers of the past 6 months, and I hope that the list that ...
Nayak Gurudutt - - 2012
Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental ...
Bayram Erhan - - 2012
Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties. Most of the patients are misdiagnosed as hypoxic ischemic encephalopathy. The majority of patients have mutations in the MOCS1 and MOCS2 genes. Although the ...
Khambete Neha - - 2012
Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of ...
Tadic Vera - - 2012
OBJECTIVE To investigate the delay in diagnosis, residual motor signs, and nonmotor signs of dopa-responsive dystonia (DRD) using literature and our own pilot data. DESIGN, SETTING, AND PATIENTS We searched the MEDLINE database for patients with clinically typical DRD and/or guanosine triphosphate cyclohydrolase I gene mutations from 1952 to 2011 ...
Sawchuk Michael - - 2012
Background:Psoriasis and vitiligo are both autoimmune diseases with an increased incidence noted in genetic relatives. They share similar trigger factors and have been observed to coexist in individuals.Objective:The purpose was to review the literature on the coexistence of psoriasis and vitiligo and to determine if there is a higher than ...
Chen Yun-Ju - - 2012
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. It is believed to ...
Luquetti Daniela V DV Seattle Children's Hospital, Craniofacial Center, Seattle, Washington 98101, USA. - - 2012
Craniofacial microsomia (CFM) is a congenital condition characterized by microtia and mandibular underdevelopment. Healthcare databases and birth defects surveillance programs could be used to improve knowledge of CFM. However, no specific International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) code exists for this condition, which makes standardized data collection ...
Ghalayani Parichehr - - 2012
The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is the most common type of NF, and accounts for about 90% of all cases. It is one of ...
Prabhu Sudeendra - - 2012
The cleft anomaly may be more ancient than the man himself. It is one of the most common developmental malformations reported in the literature. There are number of intriguing theories regarding its etiopathogenesis, each of which has some evidence in its favor. This review highlights all the genetic and environmental ...
Gomaa Wafaey M - - 2012
To review the pattern of Ewing`s sarcoma/primitive neuroectodermal tumor (ES/PNET) in 2 medical centers in the western region of Saudi Arabia. We retrospectively analyzed the pathological data of patients diagnosed with ES/PNET in 2 tertiary medical centers in the western region of Saudi Arabia (King Abdulaziz University Hospital, [March 1995 ...
Ntsekhe Mpiko - - 2012
There is sparse information on the epidemiology of effusive constrictive pericarditis (ECP). The objective of this article was to review and summarise the literature on the prevalence and outcome of ECP, and identify gaps for further research. The prevalence of ECP ranged from 2.4 to 14.8%, with a weighted average ...
Dora Vallejo - - 2012
Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as "café-au-lait" spots, axillary freckling, and hyperpigmented spots. Currently its prevalence ...
Leung Alexander K C - - 2012
Lichen nitidus is an uncommon idiopathic chronic dermatosis characterized by minute, flesh-colored or hypopigmented, shiny papules commonly occurring on the abdomen, chest, genitalia, and extremities. The disorder is most often localized but, rarely, can become extensive or generalized. The occurrence of lichen nitidus during infancy is extremely rare. A perusal ...
Neri Alberto - - 2012
To report a new sporadic case of membrane frizzled-related protein gene (MFRP)-related syndrome with a 30-month follow-up, and to review the literature for genotype-phenotype correlation in MFRP mutations. A complete ophthalmological evaluation was performed at presentation and 30 months later, including best-corrected visual acuity test, slit lamp examination, fundoscopy, kinetic ...
Inrhaoun Hanane H Department of Medical Oncology, Hôpital René Huguenin (Institut Curie), 35 rue Dailly 92210 Saint-Cloud, - - 2012
► We report a case of recurrent vulvar carcinoma with a good response to erlotinib. ► Treatment was well tolerated with no serious side effects. ► Further evaluation of this new therapeutic approach may be warranted.
McCallum A D - - 2011
Non-tuberculous mycobacteria are opportunist pathogens increasingly recognised as a cause of pulmonary and extrapulmonary disease. Treatment is complicated, prolonged and potentially toxic, and due to a limited evidence base, potentially contentious and idiosyncratic. This is a retrospective review of non-tuberculous mycobacteria cases in the NHS Borders Health Board between 1992 ...
Lawson Scott - - 2011
In early 2011, surveys of active Extracorporeal Life Support Organization (ELSO) centers within the United States were conducted by electronic mail regarding neonatal Extracorporeal Membrane Oxygenation (ECMO) equipment and professional staff. Seventy-four of 111 (67%) U.S. centers listed in the ELSO directory as neonatal centers responded to the survey. Of ...
Dubois James M - - 2012
In this paper we describe our approach to understanding wrongdoing in medical research and practice, which involves the statistical analysis of coded data from a large set of published cases. We focus on understanding the environmental factors that predict the kind and the severity of wrongdoing in medicine. Through review ...
Ben Shimol S - - 2011
Listeria monocytogenes meningitis is very rare in immunocompetent children. We present a case of a previously healthy 6-year-old girl who developed L. monocytogenes meningitis and ventriculitis. We also review the medical literature on non-neonatal L. monocytogenes meningitis in immunocompetent children.
Wilson Megan - - 2012
Streptococcus salivarius is a normal member of the human oral microbiome that is an uncommon cause of invasive infections. Meningitis is a rare but increasingly reported infection caused by S. salivarius. Despite the growing number of reported cases, a comprehensive review of the literature on S. salivarius meningitis is lacking. ...
Consunji-Araneta Raquel - - 2011
Tuberculosis (TB) remains the "great pretender." We report the case of a 10-year-old female, who presented with a mass in the left chest that was suspected initially to be a tumor. This was later confirmed to be tuberculous in nature, with dissemination to the liver. A large granuloma eventually replaced ...
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