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https://www.readbyqxmd.com/read/27843372/wissler-fanconi-syndrome-and-related-diagnoses-a-case-report
#1
Mustafa Q Albustani, Robert F Howard
INTRODUCTION: Wissler-Fanconi syndrome is a rare rheumatic syndrome that was first described during the 1940s in Europe. Since then, many papers have been written that cover all aspects of this syndrome, most of which are in French and German language, with only a very few in English (none of them recent). We report here a case that fulfils the criteria for Wissler-Fanconi syndrome. Under the more general descriptive umbrella of Wissler-Fanconi syndrome, our patient also fulfils the Modified Jones criteria, and the 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for rheumatoid arthritis, and was interpreted by other internists and another rheumatologist as fulfilling the Yamaguchi criteria for adult onset Still's disease...
2016: Open Access Rheumatol
https://www.readbyqxmd.com/read/26566341/a-rare-case-of-chronic-subdural-haematoma-presenting-with-paraparesis-a-case-report-and-review-of-literature
#2
Gururaj Sangondimath, H S Chhabra, Raghavendra Venkatesh, Ankur Nanda, Vikas Tandon
OBJECTIVES: To report a rare case of spontaneous chronic subdural haematoma presenting with paraparesis and to highlight that subdural haematoma as one of the differential diagnoses for unexplained paraparesis. SUMMARY OF BACKGROUND DATA: Chronic subdural haematoma is common in elderly people usually presenting with altered mental status, monoplegia, headache and seizure. But spontaneous chronic subdural haematoma resulting in paraparesis is not reported in the literature...
December 2015: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/26439061/stability-and-change-in-resolution-of-diagnosis-among-parents-of-children-with-autism-spectrum-disorder-child-and-parental-contributions
#3
Nurit Yirmiya, Ifat Seidman, Nina Koren-Karie, David Oppenheim, Smadar Dolev
The contribution of change over time in parent and child characteristics to parents' resolution of child's diagnosis was examined among 78 mothers and fathers of children with autism spectrum disorder. Children's characteristics (e.g., mental age and severity of symptoms), parental characteristics (e.g., attachment-related anxiety and stress level), and parents' resolution of their child's diagnosis (resolved vs. unresolved) were examined at Time 1, and reassessed 3 years later at Time 2. Results indicated a deferential contribution of change in parent and child characteristics among mothers and fathers...
November 2015: Development and Psychopathology
https://www.readbyqxmd.com/read/25851806/five-chinese-patients-with-5-oxoprolinuria-due-to-glutathione-synthetase-and-5-oxoprolinase-deficiencies
#4
Xiyuan Li, Yuan Ding, Yupeng Liu, Yanyan Ma, Jinqing Song, Qiao Wang, Yanling Yang
OBJECTIVE: 5-Oxoprolinuria is a rare inherited metabolic disorder caused by a defective gamma-glutamyl cycle resulting from mutations in the genes encoding 5-oxoprolinase (OPLAH) and glutathione synthetase (GSS). No inherited 5-oxoprolinuria case has been reported in mainland China until now. In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene mutations were investigated. METHODS: Three boys and two girls from five unrelated Chinese families with symptomatic 5-oxoprolinuria were identified within the past 3years in Peking University First Hospital...
November 2015: Brain & Development
https://www.readbyqxmd.com/read/25174279/contact-dermatitis-like-cutaneous-leishmaniasis-in-a-libyan-hiv-patient
#5
Hamida Al-Dwibe, Aisha Gashout, Abdu-Maged Morogum, Said El-Zubi, Ahmad Amro
BACKGROUND: Cutaneous leishmaniasis (CL) is one of the common tropical protozoal diseases caused by various Leishmania species, and transmitted by the sand-fly vectors, Phlebotomus and Lutzomyia species. Herein, we report for the first time a case of CL that presented as large eczematous plaques occurring on the dorsi of both feet in a Libyan drug addicted, alcoholic patient with HIV infection. FINDINGS: A 34 year-old HIV-positive, alcoholic, drug addicted Libyan male presented to us with a history of a non-itchy skin lesions on the dorsi of both feet of 5-weeks duration...
2014: Parasites & Vectors
https://www.readbyqxmd.com/read/24834301/esophageal-carcinoma-long-term-survival-in-consecutive-series-of-patients-through-a-retrospective-cohort-study
#6
Ali Delpisheh, Yousef Veisani, Kourosh Sayehmiri, Ezzatollah Rahimi
AIM: The present study aimed to investigate the influence of histological factors on survival of patients with esophageal cancer. BACKGROUND: Esophageal cancer is almost the common form of malignancy in the eastern world. PATIENTS AND METHODS: Through a retrospective cohort study a consecutive series of 134 patients with definite diagnosis of esophageal cancer who had been hospitalized at the Towhid hospital, Sanandaj city, Kurdistan province western Iran during a five-year period from 2006 onward were recruited...
2014: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/24358811/pellucid-like-keratoconus
#7
Mazen M Sinjab, Lara N Youssef
PURPOSE: To study the tomographic features of pellucid-like keratoconus (PLK), and to report a new sign on the pachymetry map (PM) in pellucid marginal degeneration (PMD). PATIENTS AND METHODS: A retrospective descriptive case series was performed in Damascus University in 2011. Clinical and tomographic findings of 15 eyes (9 patients) that had the claw pattern of the anterior sagital map (ASM) were reviewed. Patients were distributed into two groups: (1) 4 eyes were considered PMD since they had inferior corneal thinning on both slitlamp biomicroscopy and PM; (2) 11 eyes were considered as PLK since they did not show inferior corneal thinning...
2012: F1000Research
https://www.readbyqxmd.com/read/24062963/idiopathic-omental-infarction-diagnosed-and-managed-laparoscopically-a-case-report
#8
Ahmed Abdulaziz, Tamer El Zalabany, Abdul Rahim Al Sayed, Ahmed Al Ansari
Idiopathic omental infarction is a rare cause of acute abdomen in adults, and the clinical finding can mimic acute appendicitis. Although idiopathic omental infarction is uncommon, the incidence of its detection has become more frequent as a result of advances in radiological technologies. We reported on a 21-year-old man who presented with sudden onset of intermittent right lower quadrant abdominal pain for seven days. The pain became more localized at the right iliac fossa (RIF) at day 2 before admission...
2013: Case Reports in Surgery
https://www.readbyqxmd.com/read/23851894/rapidly-growing-lesions-involving-the-maxilla-in-infants-a-two-case-presentation-and-deferential-diagnosis
#9
Reza Tabrizi, Emad Bahramnejhad, Hamidreza Kazemi, Maryam Asadzadeh, Hoda Ranjbaran
Several pathologic lesions can be responsible for rapid swelling of the maxilla during infancy. Two of these uncommon lesions are melanotic neuroectodermal tumor of infancy (MNTI) and myofibroma. Despite these lesions being benign, they can have a destructive behavior that needs a meticulous diagnosis and early intervention. Melanotic neuroectodermal tumor of infancy often presents as a fast-growing lesion, suggesting a clinical impression of infection or malignant neoplasm. Local excision and curettage are appropriate treatments for MNTI...
July 2013: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/22801162/giant-gingival-pseudoepitheliomatous-hyperplasia-in-lung-squamous-cell-carcinoma
#10
Guolin Xiang, Xing Long, Qianchao Han, Lihua Tian
We here describe a case of giant primary gingival pseudoepitheliomatous hyperplasia in a 53-year-old Chinese male patient with lung squamous cell carcinoma (SCC). The pathogenesis of the lesion and the deferential diagnosis from invasive SCC are also discussed. To our knowledge, such a hugeous primary pseudoepitheliomatous hyperplasia of the gingiva accompanied with lung SCC is unusual.
July 2012: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/21924061/-mucopolysaccharidosis-vii-report-of-a-case-and-review-of-the-literature
#11
REVIEW
Yong-lan Huang, She-yong Li, Xiao-yuan Zhao, Hong-sheng Liu, Xiao-bing Ou, Li Liu
OBJECTIVE: To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII. METHOD: The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed. RESULT: The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L)...
June 2011: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/21516925/pheochromocytoma-induced-hypertension
#12
Deborah Andrews
Pheochromocytoma (Pheo) is a rare tumor that develops in the core of a chromaffin cell. This article will focus on pheochromocytoma and its affect on the heart. Because the signs and symptoms of a pheochromocytoma are those of the sympathetic nervous system, this tumor is hard to detect and might not be considered early on. In addition, there are many common deferential diagnoses that may lead to a delay of the correct diagnosis of a pheochromocytoma. Uncontrollable hypertension is one of the primary effects of pheochromocytoma...
December 2010: Journal of National Black Nurses' Association: JNBNA
https://www.readbyqxmd.com/read/20072674/acute-adomen-in-a-transplant-patient-with-tuberculous-colitis-a-case-report
#13
Nikolaos Sikalias, Konstantinos Alexiou, Lamprini Mountzalia, Vasileios Triantafyllis, Georgios Efstathiou, Georgios Antsaklis
INTRODUCTION: Tuberculous colitis is a rare form of tuberculosis and is found in immunosuppressed patients, usually with the clinical appearance of Crohn's disease. The purpose of this article is to report a rare case of tuberculous colitis in a transplant patient, presenting in the form of bowel obstruction and acute abdomen. CASE PRESENTATION: HASH(0x371f740) METHODS: A male patient, 51 years old, with a history of kidney transplant in a foreign country 19 months before, presented at the emergency department, after being referred by a primary care center, with obstipation during the previous week and acute abdominal pain...
2009: Cases Journal
https://www.readbyqxmd.com/read/19351220/differential-diagnosis-of-dementia
#14
Amanda Focht
Alzheimer's disease is by far the most common degenerative dementia, followed by dementia caused by cerebrovascular disease, Lewy body dementia, and frontotemporal dementia. These dementia subtypes have more overlapping signs and symptoms than defining ones. However, accurate diagnosis is important as each subtype has unique prognostic and treatment considerations. Key elements of the history, physical exam and diagnostic tests useful in deferential diagnosis of dementia sub-types are reviewed here.
March 2009: Geriatrics
https://www.readbyqxmd.com/read/18458573/flow-cytometry-and-morphology-analysis-of-bone-marrow-in-a-child-with-brucellosis-and-hematologic-manifestations
#15
Arnon Broides, George Shubinsky, Tikva Yermiahu, Abed Abu-Quider, Joseph Press, Asher Moser
Constitutional symptoms and pancytopenia are occasionally the initial presentation of pediatric brucellosis. Therefore, in endemic areas, in children with pancytopenia, both brucellosis and malignancy should be included in the deferential diagnosis. We report here a child with pancytopenia and hepatosplenomegaly as manifestations of brucellosis in whom bone marrow morphology and flow cytometry data revealed hemophagocytosis, left shift in myeloid cells and activation changes in antigenic properties of T and B lymphocytes and monocytes...
May 2008: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/17953808/-clinical-studies-on-fifty-seven-chinese-patients-with-combined-methylmalonic-aciduria-and-homocysteinemia
#16
RANDOMIZED CONTROLLED TRIAL
Yao Zhang, Jin-qing Song, Ping Liu, Rong Yan, Jin-hua Dong, Yan-ling Yang, Lan-feng Wang, Yu-wu Jiang, Yue-hua Zhang, Jiong Qin, Xi-ru Wu
OBJECTIVE: Methylmalonic aciduria (MMA) is a common one of the congenital disorders of organic acids metabolism. Some of the patients with the disorder are complicated with homocysteinemia. Recently, gas chromatography-mass spectrometry (GCMS) has been used to diagnose MMA in China. However, the diagnosis of the patients with combined MMA and homocysteinemia is often delayed. In this study, the natural history, clinical features and outcome of 57 Chinese patients with combined MMA and homocysteinemia were investigated...
July 2007: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/16259168/acute-appendicitis-the-reliability-of-diagnosis-by-clinical-assessment-alone
#17
V Kalliakmanis, E Pikoulis, I G Karavokyros, E Felekouras, P Morfaki, G Haralambopoulou, T Panogiorgou, E Gougoudi, T Diamantis, A Leppäniemi, C Tsigris
BACKGROUND AND AIMS: This prospective study aimed to review the trustworthiness of the initial clinical assessment in acute appendicitis without employment of imaging modalities, laparoscopy or any other adjunct diagnostic test. PATIENTS AND METHODS: 717 patients were operated on for appendicitis by six different surgeons. Initial clinical and laboratory examination were evaluated in relation to the intraoperative and the pathological appreciation of the appendiceal inflammation...
2005: Scandinavian Journal of Surgery: SJS
https://www.readbyqxmd.com/read/12081353/inflammatory-orbital-pseudotumor-simulating-retinoblastoma-in-a-one-year-old-girl
#18
Charles O Bekibele, J Olufemi Ogunbiyi
The case report of a one year old girl with a clinical diagnosis of retinoblastoma who following enucleation was histologically diagnosed as a case of inflammatory orbital pseudotumour is presented. The literature is reviewed and the conclusion is reached that inflammatory orbital pseudotumour be considered in the list of deferential diagnosis of proptosis in early childhood.
January 2002: West African Journal of Medicine
https://www.readbyqxmd.com/read/11208450/hyperacute-infarction-early-ct-findings
#19
COMPARATIVE STUDY
M Abdalla, R Bogusławska, R Poniatowska
The aim of our study is to determine how early and reliably ischemic brain infarcts can be detected on CT scanning. We report two cases of an early CT finding of acute ischemic infarcts where CT examination was obtained within the first 3 hours of onset of neurological symptoms. CT examination showed blurred outlines and decreased attenuation of the left lentiform nucleus, loss of the white-gray matter interface in the left insular cortex and left cortical global hypoattenuation with obliteration of left cortical sulci in one patient...
September 2000: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/9676403/multicystic-kidney-joined-to-the-homolateral-testis-by-an-ectopic-vas-deferens-embryological-hypothesis-for-a-new-description
#20
M Dòmini, A Aquino, M Lima, S Federici, G Andriani, L Sardella, P Lelli Chiesa, R Dòmini
Ectopic location of the vas deferens is a rare congenital anomaly with multiple variations. The frequent association with ano-rectal abnormalities and hypospadias is well known. We report two cases of a newborn and a 3-year-old child with ectopic vas deferens coupled with a left multicystic kidney without any ureteral structure. Furthermore, the latter had a contralateral vesicoureteral reflux and anal agenesis with recto-bulbar fistula. Our attempt with this report is to explain the development of such anomalous deferential outlet into the multicystic kidney, according to the most qualified theory of the Wolffian duct embryology...
June 1998: European Journal of Pediatric Surgery
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