scholarly journals Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy in Female Patients: A Case Report and Literature Review

2021 ◽  
Author(s):  
Bangce Long ◽  
Hui Tang ◽  
Xueru Zhao ◽  
Chao Yang ◽  
Tian He ◽  
...  
Keyword(s):  
Relevant Literature ◽  
Ileocecal Valve ◽  
Intestinal Wall ◽  
Lower Limbs ◽  
Hypertrophic Osteoarthropathy ◽  
X Rays ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Chronic Enteropathy ◽  
Pathogenic Genes ◽  
Close Relatives

Abstract This paper reports a case of chronic enteropathy associated with the SLCO2A1 gene (CEAS) combined with primary hypertrophic osteoarthropathy (PHO). The patient was a 25-year-old woman with a normal onset of puberty who was admitted to our hospital four times due to intractable oedema and anaemia. She had a history of hyperhidrosis since childhood, and her parents were close relatives (cousins). Enteroscopy revealed stenotic ulcers on the ileocecal valve and the terminal ileum. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE) showed segmental thickening of the ileum and terminal intestinal wall and centripetal narrowing of some intestinal cavities. MRE also showed a marked "comb sign" in the adjacent mesentery, and X-rays of both lower limbs showed thickening of the tibiofibular cortex. The CEAS pathogenic genes were screened by whole exome sequencing, and a homozygous missense mutation of p. Gly222Asp (c.664G>A) was found in the fifth exon of the SLCO2A1 gene, which was verified by Sanger sequencing. In conclusion, the patient was identified as CEAS with PHO associated with a SLCO2A1 gene mutation, but the patient is a young woman, which has rarely been reported in previous studies. In addition to reporting her case, the relevant literature was reviewed to improve clinicians' understanding of diseases associated with the SLCO2A1 gene.

scholarly journals A Retrospective Review of Patients with Radiological Missed Fractures in an Emergency Department in Hong Kong

2003 ◽  
Vol 10 (4) ◽  
pp. 215-222 ◽  
Author(s):  
VCH Ng ◽  
FL Lau
Keyword(s):  
Emergency Department ◽  
Management Plan ◽  
Lower Limbs ◽  
X Rays ◽  
Accident And Emergency ◽  
Assessment And Treatment ◽  
Spinal Region ◽  
Accident And Emergency Department ◽  
Clinical Records ◽  
Christian Hospital

Aim To review the clinical spectrum and outcome of radiological missed fractures in the Accident and Emergency Department of United Christian Hospital (UCH) in 2002. Method In UCH, radiologists report all X-Rays taken in the Accident and Emergency Department (AED) within 48 hours. The study period was from 1st January 2002 to 31st December 2002. AED notes, relevant clinical records and all X-rays of patients with suspected missed fractures as reported by radiologists were reviewed for information on clinical features, treatments and outcomes. Results A total of 286 cases of missed fractures were found. Fourteen (4.9%) involved the skull and maxillofacial region, 83 (29.0%) involved the chest region, 53 (18.5%) involved the spinal region, 72 (25.2%) involved the upper limbs and 64 (22.4%) involved the lower limbs. Of these 286 cases, 137 (47.9%) were followed up in AED, 90 (31.5%) were referred to specialist clinics for further management, 26 (9.1%) required admission to hospital for further assessment and treatment, and 33 (11.5%) defaulted follow up. Furthermore, 87 (30.4%) of these 286 missed fractures required a change in management plan: 3 missed fractures required operative intervention (internal fixation) and 84 missed fractures required some form of external immobilisation. This group of patient did not lodge any complaint or claim. Conclusion A&E doctors missed quite a number of fractures that might result in significant morbidity. However, a reporting system by radiologists within 48 hours from discharge can pick up all these missed fractures, and may prevent complaints and litigations.

Primary hypertrophic osteoarthropathy with bilateral destructive hip arthritis

2006 ◽  
Vol 73 (4) ◽  
pp. 477-479 ◽  
Author(s):  
Mohamed Younes ◽  
Mongi Touzi ◽  
Ismail Béjia ◽  
Saoussen Zrour-Hassen ◽  
Najeh Amara ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Hip Arthritis

scholarly journals Erratum: Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

2008 ◽  
Vol 40 (7) ◽  
pp. 927-927
Author(s):  
Sandeep Uppal ◽  
Christine P Diggle ◽  
Ian M Carr ◽  
Colin W G Fishwick ◽  
Mushtaq Ahmed ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

Primary hypertrophic osteoarthropathy: Another heritable disorder associated with patent ductus arteriosus

1993 ◽  
Vol 14 (3) ◽  
pp. 181-182 ◽  
Author(s):  
Manuel Mart�nez-Lav�n ◽  
Carlos Pineda ◽  
Carmen Navarro ◽  
Alfonso Buend�a ◽  
Carlos Zabal
Keyword(s):  
Patent Ductus Arteriosus ◽  
Ductus Arteriosus ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Heritable Disorder ◽  
Patent Ductus

Primary Hypertrophic Osteoarthropathy

2009 ◽  
pp. 1721-1721
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

scholarly journals The prevalance of femoroacetabular impingement findings on radiological survey of the emergeny service patients with trauma

2017 ◽  
Vol 5 (2_suppl2) ◽  
pp. 2325967117S0006
Author(s):  
Gökhan Polat ◽  
Koray Şahin ◽  
Ufuk Arzu ◽  
Mehmet Aşık
Keyword(s):  
Emergency Service ◽  
Pelvic Ring ◽  
Adult Population ◽  
Alpha Angle ◽  
Symphysis Pubis ◽  
Lower Limbs ◽  
Female Group ◽  
X Rays ◽  
Pelvic Ring Fractures ◽  
Asymptomatic Stage

Femoroacetabular impingemet (FAI) is a disease causing hip pain in young-adult population and can be diagnosed frequently on asymptomatic stage. The European studies on this subject show that 20-25% of the population actually has asymptomatic FAI. Actually, there is no study in Turkey on this topic. The purpose of our study is to determine the prevalance of FAI on the X-rays of the patients who applied to the emergency service with trauma. Materials-Methods: Patients applied between September 2015 and January 2016 aged 18-65 and who has pelvis AP and frog leg X-rays were included. Pelvic graphs on which both iliac crests and proximal femurs are seen, the X-ray tube is centralised to the symphysis pubis and the obturator foramens are symmetrical were included. The graphs with fractures or ligamentous injuries affecting the pelvic ring, fractures on long bones of the lower limbs, arthrosis on coxofemoral joint and findings of previous pelvic and hip surgery were excluded. Totally 3487 patients were evaluated and 528 of them were included. Alpha, lateral central edge (LCE), Tönnis and collodiaphyseal angle were measured. The morphological anomalies (FAI, dysplasia) were noted. The measured alpha angle value above 55° graphs were accepted as CAM type; Tönnis angle below 4° angle or LCE angle above 39° were accepted as Pincer type impingement. The graphs with LCE angle below 25° or with Tönnis angle above 10° were considered as dysplasia. Results: The average age of the 528 included patients was 43,38. 323 were female and 205 were male. We determined 15,5% CAM, 11,1% Pincer and 4,7% combined type FAI in these 528 patients.The ratios were noted in female group, 4,6% CAM, 13,3% Pincer and 1,5% combined type; in male group 32,7% CAM, 7,8% Pincer 9,8% combined type. Average alpha angle on pelvis AP graphs was 48,9° on right and 47,8° on left side. Average alpha angle on pelvis frog leg graphs was 51,7° on right, 49,8° on left side. Average LCE angle was 32,9° on right and 34,7° on left side. Average Tönnis angle was 6,7° for right and 5,8° for left side. SPSS.21 were used to analyse the data. Discussion: FAI can be seen in population asymptomatically with a seriously high rates. In our study, we evaluated the asypmtomatic patients with trauma applying to the emergency service and we found radiological FAI findings rate 19,5% in females and 50,2% in males.

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