scholarly journals Un caso de Síndrome de Wünderlich y revisión de la bibliografía / A case of Wünderlich syndrome and literature review

Ciencia Unemi ◽  
2016 ◽  
Vol 9 (19) ◽  
pp. 84
Author(s):  
Katiuska Mederos Mollineda ◽  
Yumy Fernandez Velez ◽  
Lilian Escariz Borrego ◽  
Victor Chavez Guerra ◽  
Jorge Diaz Rodriguez
Keyword(s):  
Surgical Treatment ◽  
Literature Review ◽  
Rare Disease ◽  
Pelvic Pain ◽  
High Frequency ◽  
Congenital Malformations ◽  
Clinical Symptoms ◽  
Specific Treatment ◽  
Diagnosis And Treatment ◽  
Statistical Report

El diagnóstico y terapéutica de las malformaciones congénitas todavía hoy constituye una problemática universal. El presente trabajo corresponde al estudio de un caso de una adolescente de 14 años de edad, paciente del Hospital Oncológico Dr. Julio Villacreses Colmont de Manabí (SOLCA), Ecuador, que a partir del mes de septiembre de 2014 inicia con cuadro clínico de dolor pélvico mantenido, leucorrea persistente y fétida, sin menarquia y sin respuesta a tratamiento específico. Realizadas la Ecografía y Resonancia Magnética, se definen múltiples malformaciones congénitas, obteniéndose el diagnóstico del Síndrome de Wünderlich; una patología rara, con frecuencia de un 40%. El objetivo de este trabajo consiste en demostrar la elevada frecuencia de esta morbilidad para disminuir tratamientos quirúrgicos innecesarios (Histerectomía), un factor agravante para su eventual compromiso reproductivo. En Ecuador no reportan estadísticas del síndrome, o existe un subregistro de esta entidad. Abstract The diagnosis and treatment of congenital malformations is still a universal problem nowadays. The present work is a study of a case of a 14-year-old patient at the Cancer Hospital Dr. Julio Villacreces Colmont (SOLCA) in Manabí, Ecuador, that from September 2014 begins with clinical symptoms of steady pelvic pain, a persistent and fetid leukorrhea without menarche and response to a specific treatment. Once carried ultrasound and MRI, multiple congenital malformations are defined to give the diagnosis Wünderlich Syndrome; a rare disease, which is frequent at a 40%. The objective of this work is to demonstrate the high frequency of this disease to reduce unnecessary surgical treatment (hysterectomy), which is an aggravating factor for possible reproductive status. In Ecuador there is no statistical report of this syndrome, or there is underreporting of this disease.

Empirical and long-term therapy for endometriosis-associated pelvic pain

2021 ◽  
pp. 8-12
Author(s):  
I. V. Kuznetsova
Keyword(s):  
Literature Review ◽  
Medical Treatment ◽  
Pelvic Pain ◽  
Clinical Characteristics ◽  
Current Data ◽  
Diagnosis And Treatment ◽  
Term Therapy ◽  
Common Disease ◽  
Long Term Therapy

Endometriosis is a common disease, the diagnosis and treatment of which is still a matter of debate. One of the main symptoms of endometriosis -pelvic pain is a particular problem due to the difficulties in identifying the cause and the lack of sufficient effect from surgical and medical treatment. The literature review presents current data on the prevalence, clinical characteristics and methods of individualized therapy in patients with pelvic pain established or presumably associated with endometriosis.

Rhinoentomophthoromycosis. Report of two cases

1996 ◽  
Vol 110 (12) ◽  
pp. 1154-1156 ◽  
Author(s):  
Luis F. Ochoa ◽  
Carlos S. Duque ◽  
A. Velez
Keyword(s):  
Rare Disease ◽  
Clinical Symptoms ◽  
Diagnosis And Treatment

AbstractTwo cases of rhinoenetomophthoromycosis are presented. This rare disease can prodice progressive deformity of the nose and facial structures. A review of the clinical symptoms along with its diagnosis and treatment is described.

scholarly journals Management of Synovial Osteochondromatosis of the Distal Radioulnar Joint with Imaging Features Consistent with Malignancy

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Colin W. McInnes ◽  
Thomas J. Goetz
Keyword(s):  
Surgical Treatment ◽  
Literature Review ◽  
Rare Disease ◽  
Malignant Transformation ◽  
Distal Radioulnar Joint ◽  
Imaging Features ◽  
Rare Entity ◽  
Preoperative Management ◽  
Radioulnar Joint ◽  
Synovial Osteochondromatosis

Synovial osteochondromatosis of the distal radioulnar joint is a rare entity with only 14 cases reported in the literature. Malignant transformation of synovial osteochondromatosis is the most worrisome complication of the disease. It has been described in joints such as the hip and knee but never for the distal radioulnar joint. We report a case of synovial osteochondromatosis of the distal radioulnar joint which presented with radiographic features which were worrisome for malignant transformation and required a comprehensive preoperative workup. Discussed are the preoperative management, surgical treatment, and a literature review of this rare disease.

Rare and curable renin-mediated hypertension: a series of six cases and a literature review

2016 ◽  
Vol 29 (2) ◽  
Author(s):  
Wei-Jun Gu ◽  
Lin-Xi Zhang ◽  
Nan Jin ◽  
Jian-Ming Ba ◽  
Jun Dong ◽  
...  
Keyword(s):  
Young Adults ◽  
Surgical Treatment ◽  
Literature Review ◽  
Rare Disease ◽  
Renal Tumor ◽  
Secondary Hypertension ◽  
Imaging Studies ◽  
Refractory Hypertension ◽  
Venous Catheterization

AbstractReninoma is an extremely rare renal tumor characterized by excessive renin secretion causing secondary hypertension and hypokalemia. Reninoma is a benign and highly manageable lesion if it is discovered early and removed surgically.We report six cases of reninoma and provide a literature review on this rare disease, highlighting the diagnostic evaluation and follow-up of each patient.Reninoma should be considered in young adults with elevated renin activity and refractory hypertension. Imaging studies and selective venous catheterization are often helpful in identifying the lesion. In most cases of reninoma presenting with renin-mediated hypertension, conservative surgical treatment should be considered to remove the small, superficial lesion.

scholarly journals Consensus statement on diagnosis and treatment of cervical ossification of posterior longitudinal ligament from Asia Pacific Spine Society (APSS) 2020

2020 ◽  
Vol 28 (3) ◽  
pp. 230949902097521
Author(s):  
Xiao-fei Sun ◽  
Yuan Wang ◽  
Jing-chuan Sun ◽  
Xi-ming Xu ◽  
Qing-jie Kong ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Consensus Statement ◽  
Clinical Symptoms ◽  
Posterior Longitudinal Ligament ◽  
Diagnosis And Treatment ◽  
Asia Pacific ◽  
Ct Reconstruction ◽  
Whole Process ◽  
Surgical Methods ◽  
Level Of Agreement

Purpose: The study aimed to develop an evidence-based expert consensus statement on diagnosis and treatment of cervical ossification posterior longitudinal ligament (OPLL). Method: Delphi method was used to perform such survey, and the panel members from Asia Pacific Spine Society (APSS) 2020 were invited to answer the open-ended questions in rounds 1 and 2. Then the results were summarized and developed into a Likert-style questionnaire for voting in round 3, and the level of agreement was defined as 80%. In the whole process, we conducted a systematic literature search on evidence for each statement. Results: Cervical OPLL can cause various degrees of neurological symptoms, an it’s thought to be more common in Asia population. CT reconstruction is an important imaging examination to assist diagnosis and guide surgical choice. Segmental, continuous, mixed, and focal type is the most widely used classification system. The non-surgical treatment is recommended for patients with no or mild clinical symptoms, or irreversible neurological damage, or failed surgical decompression, or condition cannot tolerant surgery, or refusing surgery. As OPLL may continue to develop gradually, surgical treatment would be considered in their course inevitably. The surgical choice should depend on various conditions, such as involved levels, thickness, and type of OPLL, skill-experiences of surgeons, which are listed and discussed in the article. Conclusion: In this statement, we describe the clinical features, classifications, and diagnostic criteria of cervical OPLL, and review various surgical methods (such as their indications, complications), and provide a guideline on their choice strategy.

Paraovarian tumor of borderline malignancy – a case report

2004 ◽  
Vol 14 (4) ◽  
pp. 680-682
Author(s):  
A. L. F. A. De Areia ◽  
C. Frutuoso ◽  
N. Amaral ◽  
I. Dias ◽  
C. De Oliveira
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Literature Review ◽  
Pelvic Pain ◽  
Histological Diagnosis ◽  
Clinical Aspects ◽  
Staging Surgery ◽  
Borderline Malignancy

A case of a 23-year-old woman with a paraovarian tumor is presented. The patient complained of pelvic pain and abdominal swelling. Cystectomy was the initial surgical treatment, but after the histological diagnosis, a staging surgery was carried out. The clinical aspects and subsequent management of related cases are discussed, and a literature review is made.

scholarly journals Clinical masks of pleuropulmonary dirofilariasis, a rare clinical presentation of dirofilariasis in Russia: a report of four cases and literature review

2015 ◽  
Vol 20 (1) ◽  
pp. 43-49
Author(s):  
A. M Bronshteyn ◽  
N. A Malyshev ◽  
L. V Fedianina ◽  
A. A Frolova ◽  
I. V Davydova
Keyword(s):  
Literature Review ◽  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Strain Differences ◽  
Dirofilaria Repens ◽  
Moscow Region ◽  
Diagnosis And Treatment ◽  
Clinical Simulation ◽  
Regions Of Russia

There arc described four cases of infection of the lungs and pleura with Dirofilaria in patients infected in the Moscow region and Moscow, with clinical manifestations of recurrent exudative pleurisy, tumor-like formations in the pleura and the lungs. Non-specific clinical symptoms and clinical simulation of common known diseases render difficult the clinical and instrumental diagnosis of pleuropulmonary dirofilariasis. Currently, the best method of diagnosis and treatment of heartworm lungs and pleura is Videothoracoscopy. There are analyzed factors that contribute to the pleuropulmonary infection with Dirofilaria. There is mentioned the possibility of strain differences between Dirofilaria repens, distributed in various regions of Russia and abroad, and there are discussed the problems of treatment.

scholarly journals The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tiziana Vaisitti ◽  
Daniela Peritore ◽  
Paola Magistroni ◽  
Andrea Ricci ◽  
Letizia Lombardini ◽  
...  
Keyword(s):  
Rare Disease ◽  
Organ Failure ◽  
Rare Diseases ◽  
Clinical Symptoms ◽  
Specific Treatment ◽  
Disease Diagnosis ◽  
Definitive Treatment ◽  
Transplant Recipients ◽  
Monogenic Diseases ◽  
Lung Transplants

Abstract Background Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare diseases have a genetic background and most of them are monogenic conditions. In addition, while the majority of these diseases is still incurable, early diagnosis and specific treatment can improve patients’ quality of life. Transplantation is among the therapeutic options and represents the definitive treatment for end-stage organ failure, both in children and adults. The aim of this paper was to analyze, in a large cohort of Italian patients, the main rare genetic diseases that led to organ transplantation, specifically pointing the attention on the pediatric cohort. Results To the purpose of our analysis, we considered heart, lung, liver and kidney transplants included in the Transplant Registry (TR) of the Italian National Transplantation Center in the 2002–2019 timeframe. Overall, 49,404 recipients were enrolled in the cohort, 5.1% of whom in the pediatric age. For 40,909 (82.8%) transplant recipients, a disease diagnosis was available, of which 38,615 in the adult cohort, while 8,495 patients (17.2%) were undiagnosed. There were 128 disease categories, and of these, 117 were listed in the main rare disease databases. In the pediatric cohort, 2,294 (5.6%) patients had a disease diagnosis: of the 2,126 (92.7%) patients affected by a rare disease, 1,402 (61.1%) presented with a monogenic condition. As expected, the frequencies of pathologies leading to organ failure were different between the pediatric and the adult cohort. Moreover, the pediatric group was characterized, compared to the adult one, by an overall better survival of the graft at ten years after transplant, with the only exception of lung transplants. When comparing survival considering rare vs non-rare diseases or rare and monogenic vs rare non-monogenic conditions, no differences were highlighted for kidney and lung transplants, while rare diseases had a better survival in liver as opposed to heart transplants. Conclusions This work represents the first national survey analyzing the main genetic causes and frequencies of rare and/or monogenic diseases leading to organ failure and requiring transplantation both in adults and children.

scholarly journals Inflammatory myofibroblastic tumors in children: literature review

2020 ◽  
Vol 7 (2) ◽  
pp. 64-77
Author(s):  
A. M. Suleymanova ◽  
D. Yu. Kachanov ◽  
E. N. Imyanitov ◽  
V. Yu. Roshchin ◽  
T. V. Shamanskaya ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Literature Review ◽  
Inflammatory Myofibroblastic Tumor ◽  
Biological Characteristics ◽  
Therapeutic Options ◽  
Diagnosis And Treatment ◽  
Rare Type ◽  
Biological Potential ◽  
Inflammatory Myofibroblastic Tumors

Inflammatory myofibroblastic tumor (IMT) is a rare type of neoplasm with undetermined biological potential. IMT can occur in both childhood and adulthood. The standard of therapy is radical surgical treatment, but for patients with inoperable/recurrent or metastatic forms of IMT, therapeutic options are very limited. This literature review describes specific clinical, morphological and biological characteristics of this neoplasm, provides modern approaches to the diagnosis and treatment of IMT.

scholarly journals Pneumatosis Cystoides Intestinalis Accompanied by Schistosomiasis: A Case Report

2021 ◽  
Author(s):  
Chunyan Yuan ◽  
Zhongyue Huang ◽  
Qiping Liu ◽  
Ling Du ◽  
Xiaoli Xie ◽  
...  
Keyword(s):  
Small Intestine ◽  
Surgical Treatment ◽  
Conservative Treatment ◽  
Rare Disease ◽  
Clinical Symptoms ◽  
Air Bearing ◽  
Pathological Features ◽  
First Choice ◽  
Life Threatening ◽  
Intestinal Submucosa

Abstract Background: Pneumatosis cystoides intestinalis (PCI) is a rare disease that occurs frequently in the large and small intestine and has no obvious clinical symptoms. It is difficult to preoperatively diagnose and is easily undiagnosed or misdiagnosed. The main pathological features are air-bearing cysts in the intestinal submucosa, intermuscular wall and subserous membrane. Case presentation: PCI is a rare disease, which often occurs in the large intestine and small intestine，without obvious clinical symptoms. It is difficult to diagnose before operation and is easy to be missed and misdiagnosed. Duvernoi first described the disease in 1730. The main pathological features were air-bearing cysts in intestinal submucosa, intermuscular wall and subserous membrane. Conservative treatment is the first choice when there are no serious complications, and timely surgical treatment is needed for serious and life-threatening complications. This report presents the clinical and pathological analysis of PCI in a 92-year-old man. The patient was admitted to hospital because of acute peritonitis,and was diagnosed as PCI with schistosomiasis after emergency operation. Postoperative follow-up is generally in good condition.Conclusions: The incidence of PCI is low. Because of a lack of specificity in clinical manifestations and endoscopic findings, PCI is difficult to diagnose preoperatively and is easily missed and misdiagnosed. Conservative treatment is the first choice when there are no serious complications; however, timely surgical treatment is required for serious and life-threatening complications.PCI treatment is effective andconvenient, and the prognosis is optimistic. Therefore, clinicians should increase their awareness of PCI to avoid unnecessary misdiagnosis.

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