scholarly journals Pseudomyxoma peritonei

2014 ◽  
Vol 18 (1) ◽  
Author(s):  
Binit Sureka ◽  
Mahesh K. Mittal ◽  
Aliza Mittal ◽  
Mukul Sinha ◽  
Brij B. Thukral
Keyword(s):  
Pseudomyxoma Peritonei ◽  
Rare Complication ◽  
Critical Role ◽  
Biliary Tree ◽  
Rare Entity ◽  
Loss Of Function ◽  
Visceral Organs ◽  
Mucinous Tumours

Pseudomyxoma peritonei is a rare complication of mucinous tumours of appendiceal or ovarian origin. Other associations are malignancies of the colon, urachus and biliary tree. Large amounts of extracellular and peritoneal mucin result in distortion and loss of function of visceral organs. Currently, radiology plays a critical role in diagnosing this rare entity, in follow-up and in predicting the outcome of cytoreductive surgeries.

scholarly journals Pseudomyxoma peritonei (PMP) - a rare entity

2011 ◽  
Vol 15 (3) ◽  
pp. 79-81 ◽  
Author(s):  
Zaeem Ismail Ebrahim ◽  
Zarina Ismail Lockhat ◽  
Farzanah Ismail
Keyword(s):  
Pseudomyxoma Peritonei ◽  
Rare Complication ◽  
Morbidity And Mortality ◽  
Rare Entity ◽  
Loss Of Function ◽  
New Techniques ◽  
Visceral Organs ◽  
Mucinous Tumours

Pseudomyxoma peritonei (PMP) is a rare complication of mucinous tumours of appendiceal or ovarian origin that results in peritoneal and omental implants. Clinical morbidity and mortality arise from the fact that copious amounts of extracellular and peritoneal mucin result in distortion and loss of function of visceral organs. Therapeutic paracentesis is not possible because of the nature of the mucin. Currently, new techniques are being used to attempt to debulk the mucin volume; none, however, has lead to superior outcome.

scholarly journals Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

2019 ◽  
Author(s):  
Mei Sim Lung ◽  
Catherine A. Mitchell ◽  
Maria A. Doyle ◽  
Andrew C. Lynch ◽  
Kylie L. Gorringe ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Pseudomyxoma Peritonei ◽  
Loss Of Function ◽  
Site Mutation ◽  
Germline Variants ◽  
Missense Variants ◽  
Whole Exome ◽  
Mucinous Tumours

Abstract Background Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. Materials and Methods Through germline whole exome sequencing, we identified novel heterozygous loss-of-function (LoF) (i.e. nonsense, frameshift and essential splice site mutations) and missense variants shared between father and daughter, and validated all LoF variants, and missense variants with a Combined Annotation Dependent Depletion (CADD) scaled score of ≥10. Genome-wide copy number analysis was performed on tumour tissue from both individuals to identify regions of LOH. Results Seventeen novel variants in 17 genes were shared by the father and daughter: a nonsense mutation in REEP5 , an essential splice site mutation in THOP1 , and 15 missense variants. None of these germline variants were located in tumour regions of LOH shared by the father and daughter. Four genes ( EXOG , RANBP2, RANBP6 and TNFRSF1B ) harboured missense variants that fell in a region of LOH in the tumour from the father only, but none showed somatic loss of the wild type allele in the tumour. The REEP5 gene was sequenced in 23 individuals with presumed sporadic PMP; no LoF or rare missense germline variants were identified. Conclusion Germline exome sequencing of a father and daughter with AMTs identified novel candidate predisposing genes. Further studies are required to clarify the role of these genes in familial AMTs.

scholarly journals A rare entity of non-filarial lymphedema

2021 ◽  
Vol 2 (2) ◽  
Author(s):  
Christopher Stauch ◽  
◽  
Moein Jafari ◽  
Hyma Polimera ◽  
◽  
...  
Keyword(s):  
Rare Complication ◽  
Body Part ◽  
Venous Stasis ◽  
Rare Entity ◽  
Dermatology Clinic ◽  
Subcutaneous Tissues ◽  
The Right ◽  
Chronic Lymphedema ◽  
Lymphatic Obstruction

Patient is a 77 year old female who presented to the outpatient dermatology clinic due to progressive massive leg swelling. Physical exam demonstrated bilateral lower extremity chronic lymphedema with stasis dermatitis changes with the left more significant than the right. The patient was diagnosed with elephantiasis nostras verrucosa (ENV) and was treated with leg elevation and arranged for follow-up with a chronic lymphedema clinic. ENV is a rare complication of non-filarial chronic lymphedema. Its pathogenesis is characterized by long-standing lymphatic obstruction, which may occur due to a variety of obstructive diseases. This can lead to accumulation of proteinaceous fluid in the dermis and subcutaneous tissues causing further lymphatic obstruction and edema followed by hyperkeratosis, fibrosis, and formation of papillated, verrucous papules. Differential diagnoses to consider include venous stasis dermatitis, cellulitis, lipodermatosclerosis, pretibial myxedema, and lymphatic filariasis. Mainstays of treatment of ENV include elevation of the affected body part, compressive hosiery, and antibiotic prophylaxis for superimposed infection [1].

scholarly journals Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

2019 ◽  
Author(s):  
Mei Sim Lung ◽  
Catherine A. Mitchell ◽  
Maria A. Doyle ◽  
Andrew C. Lynch ◽  
Kylie L. Gorringe ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pseudomyxoma Peritonei ◽  
Loss Of Function ◽  
Germline Variants ◽  
Missense Variants ◽  
Genome Wide ◽  
Whole Exome ◽  
Predisposing Genes ◽  
Mucinous Tumours

Abstract Background Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. Methods Through germline whole exome sequencing, we identified novel heterozygous loss-of-function (LoF) (i.e. nonsense, frameshift and essential splice site mutations) and missense variants shared between father and daughter, and validated all LoF variants, and missense variants with a Combined Annotation Dependent Depletion (CADD) scaled score of ≥10. Genome-wide copy number analysis was performed on tumour tissue from both individuals to identify regions of LOH. Results Fifteen novel variants in 15 genes were shared by the father and daughter, including a nonsense mutation in REEP5. None of these germline variants were located in tumour regions of LOH shared by the father and daughter. Four genes ( EXOG , RANBP2, RANBP6 and TNFRSF1B ) harboured missense variants that fell in a region of LOH in the tumour from the father only, but none showed somatic loss of the wild type allele in the tumour. The REEP5 gene was sequenced in 23 individuals with presumed sporadic AMTs or PMP; no LoF or rare missense germline variants were identified. Conclusion Germline exome sequencing of a father and daughter with AMTs identified novel candidate predisposing genes. Further studies are required to clarify the role of these genes in familial AMTs.

Treatment of pseudomyxoma peritonei by intraoperative and intraperitoneal chemotherapy

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e16540-e16540
Author(s):  
M. Friedrich ◽  
W. Poleska ◽  
J. Baltzer ◽  
D. Salehin
Keyword(s):  
Side Effects ◽  
Intraperitoneal Chemotherapy ◽  
Pseudomyxoma Peritonei ◽  
Mucinous Cystadenoma ◽  
Ovarian Tumour ◽  
The Other ◽  
Mucinous Cystadenocarcinoma ◽  
Borderline Tumour ◽  
Mucinous Tumours

e16540 Background: Pseudomyxoma peritonei occurs mostly in conjunction with the type of intestinal mucinous borderline tumour and is characterized by building up a lot of mucus pour of cells. The most common tumor is the pseudomyxoma peritoneii with mucinous borderline tumours of the ovaries or with mucinous tumours of the appendix, normally without showing a rupture of the ovarian tumour pre- or intraoperatively. The diagnosis of pseudomyxoma peritonei is mainly difficult and guidelines for the treatment are unknown. Methods: In the period from 1991 to 2008, 52 patients with pseudomyxoma peritonei were treated by tumour debulking and intraoperative and intraperitoneal chemotherapy with Mitoxantron (40 mg in 300 ml of NaCl over 72 hours). During the tumour debulking a CUSA system was used. Results: The median follow-up was 8.2 years. There were the following histologies: mucinous cystadenoma of the ovary n = 29, mucinous cystadenoma of the appendix n = 10, mucinous cystadenocarcinoma n = 13. Reccurrences were seen in 4 patients. These patients were treated for reccurrences by the same way as mention above. All these patients were now without any recurrences. The other 48 patients are still alive with recurrences. Conclusions: The instillation of mitoxantron intraperitoneally and intraoperatively is an effective and safe therapy without any side effects after maximal tumour debulking of pseudomyxoma peritoneii. No significant financial relationships to disclose.

scholarly journals Ibuprofen-Induced Aseptic Meningitis in a Male Adolescent with Intracranial Hypertension and Visual Impairment: A Case Report

2021 ◽  
Vol 13 (1) ◽  
pp. 233-238
Author(s):  
Seyed Mohammad Mousavi Mirzaei ◽  
Zahra Ahmadi
Keyword(s):  
Visual Impairment ◽  
Intracranial Hypertension ◽  
Aseptic Meningitis ◽  
Rare Complication ◽  
Clinical Signs ◽  
Male Adolescent ◽  
Drug Induced ◽  
Blurred Vision ◽  
Inflammatory Drugs

Drug-induced aseptic meningitis (DIAM) is a rare complication of certain drugs, most commonly reported with ibuprofen use. The present study reports on a male adolescent with intracranial hypertension and visual impairment accompanied by DIAM. We present a 16-year-old male patient who after ibuprofen consumption displayed headache, fever, photophobia, and blurred vision following heavy exercises. Examination of cerebrospinal fluid showed a mononuclear pleocytosis and an increase in protein concentration. Other examinations had normal results. The development of common clinical signs following ibuprofen use reflected DIAM. The patient’s vision was found to improve with supportive care and stopping of the drug during follow-up. Given the widespread use of nonsteroidal anti-inflammatory drugs and the fact that these drugs are the most common cause of DIAM, the probability of occurrence of this event should be always kept in mind, and screening for autoimmune diseases in these patients is of great importance.

scholarly journals Determinants of student’s physical activity: a 12-month follow-up study in Ningxia province

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Huang ◽  
Xiangrong Shi ◽  
Yujie Wang ◽  
Xiaoling Li ◽  
Pengpeng Gao ◽  
...  
Keyword(s):  
Physical Activity ◽  
Children And Adolescents ◽  
Vigorous Physical Activity ◽  
Skill Training ◽  
Critical Role ◽  
School Factors ◽  
Factors Associated ◽  
Students Attitudes ◽  
Sport Events

Abstract Background Physical activity has many health benefits for children and adolescents. However, the prevalence of physical inactivity in school-aged children and adolescents remains high in China. Many factors impact the levels of moderate and vigorous physical activity (MVPA) among students. This study investigated the factors associated with students’ MVPA levels and the determinants of changes in their MVPA behaviour. Methods This is a longitudinal study with a 12-month follow-up. The study samples were obtained from 2016 and 2017 Physical Activity and Fitness in China—The Youth Study, and they included 1597 students (aged 9–18 years) from 31 primary, junior high, and high schools in Ningxia Province. Factors related to the individual (Age, Sex, BMI and attitude to PA), school (school exercise facility, PE class, teacher support, PA time and PA environment) and neighbourhood (free skill training, sport events, sport organization, sport facility) factors were measured via questionnaire at baseline and after 12 months. Multiple logistic regression was performed to examine the factors that impact students’ MVPA level and the determinants of changes in students’ MVPA behaviour. Results There was no difference in students’ MVPA levels between 2016 and 2017. Boys were more physically active than girls at baseline (RR 1.55, 95% CI 1.10, 2.20). Neighbourhood factors associated students’ MVPA levels were significant, but all of these factors (neighbourhood sport events, organizations, facilities, etc.) were removed from the longitudinal model. Individual and school factors were important for students’ MVPA maintenance and positive development (e.g., gender, attitude, school PE class and PA time). Conclusions In conclusion, both neighbourhood and school factors may affect students’ MVPA, but school appears to plays a more critical role in maintaining and promoting students’ MVPA levels. In addition, individual factors may be more important than school and neighbourhood factors in influencing students’ MVPA levels. Our research demonstrates that students’ attitudes towards PA and school factors should be considered targets for future intervention programmes to promote MVPA. More education programmes may help enhance students’ attitudes towards PA, but more studies with large samples and objective assessments are needed to explore the determinants of MVPA.

Granulomatous slack skin variant of mycosis fungoides: Clinical and dermoscopic follow‐up of a very rare entity

2021 ◽  
Author(s):  
Ryszard Swoboda ◽  
Grazyna Kaminska‐Winciorek ◽  
Marcin Wesolowski ◽  
Katarzyna Dulik ◽  
Sebastian Giebel
Keyword(s):  
Mycosis Fungoides ◽  
Rare Entity

scholarly journals Multiple Koenen Tumors, a Rare Entity: Combination Treatment with 1% Topical Sirolimus Electrofulguration and Excision

2020 ◽  
Vol 7 (1) ◽  
pp. 66-70
Author(s):  
Vishalakshi Viswanath ◽  
Jay D. Gupte ◽  
Niharika Prabhu ◽  
Nilima L. Gour
Keyword(s):  
Tuberous Sclerosis ◽  
Combination Treatment ◽  
Tumor Regression ◽  
Surgical Excision ◽  
Tumor Formation ◽  
Rare Entity ◽  
Rare Presentation ◽  
Cutaneous Manifestations ◽  
Elderly Female

<b><i>Introduction:</i></b> Koenen tumors are benign, cutaneous manifestations of tuberous sclerosis. These are disfiguring, painful, and challenging to treat as they frequently recur. We report a case of long-standing, multiple Koenen tumors affecting all twenty nails in an elderly female who was successfully treated with a combination of topical sirolimus 1%, surgical excision, and electrofulguration. <b><i>Case Report:</i></b> A 57-year-old lady presented with multiple, asymptomatic periungual, and subungual tumors affecting all twenty nails since 27 years. Cutaneous examination revealed confetti macules, ash-leaf macule, and shagreen patch over trunk. Nail biopsy was compatible with Koenen’s tumor. Computerized tomography of brain showed diffuse patchy sclerosis. The tumors were treated with topical sirolimus 1% ointment for 10 months with excellent regression. Electro­fulguration for both great toenails and surgical excision of right thumbnail periungual fibroma was done. 1% sirolimus was advised after the surgical treatment. There were no adverse effects or recurrence of tumors over a 2-year follow-up. <b><i>Discussion:</i></b> Topical sirolimus 1% was effective in tumor regression and preventing new tumor formation. Larger tumors that interfered in daily chores were treated with excision and electrofulguration. Thus, a combination treatment for this rare presentation of tuberous sclerosis provided optimum results.

scholarly journals Duret Hemorrhage after Extradural Hematoma Evacuation–A Rare Entity

2021 ◽  
Author(s):  
Lamkordor Tyngkan ◽  
Nazia Mahfouz ◽  
Sobia Bilal ◽  
Bazla Fatima ◽  
Nayil Malik
Keyword(s):  
Intracranial Pressure ◽  
Epidural Hematoma ◽  
Rare Complication ◽  
Rare Entity ◽  
Raised Intracranial Pressure ◽  
Extradural Hematoma ◽  
Transtentorial Herniation ◽  
Hematoma Evacuation ◽  
Brainstem Injury ◽  
Acute Epidural Hematoma

AbstractTraumatic brainstem injury can be classified as primary or secondary. Secondary brainstem hemorrhage that evolves from raised intracranial pressure (ICP) and transtentorial herniation is referred to as Duret hemorrhage. We report a 25-year-old male who underwent emergency craniotomy, with evacuation of acute epidural hematoma, and postoperatively developed fatal Duret hemorrhage. Duret hemorrhage after acute epidural hematoma (EDH) evacuation is a very rare complication and the outcome is grave in most of the cases.

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