scholarly journals Acral Lentiginous melanoma arising in Brauer-Buschke-Fischer plantar keratoderma

2021 ◽  
Vol 6 (2) ◽  
Keyword(s):  
Autosomal Dominant ◽  
Type I ◽  
Pathophysiological Mechanism ◽  
Palmoplantar Keratoderma ◽  
Acral Lentiginous Melanoma ◽  
Case Presentation ◽  
Rare Association ◽  
History Of ◽  
The Right ◽  
Variable Penetrance

Type I Punctuate palmoplantar keratoderma or Brauer-Buschke-Fischer keratoderma (BBFK) is a rare autosomal dominant keratinisation disorder with variable penetrance. \r\n The emergence of acral lentiginous melanoma on palmoplantar keratoderma is rarely reported. Herein, we present a case of a 53-year-old woman with a history of BBFK in both palms and soles, who developed an acral lentiginous melanoma. The clinical examination showed multiple tiny hyperkeratotic and translucent papules on both palms and soles. On the right sole, she developed an acral lentiginous melanoma over a hyperkeratoic area. This case presentation illustrates a rare association of malignant melanoma and BBFK and seeks to enhance further investigations to determine its pathophysiological mechanism.\r\n

scholarly journals Sepsis from Neurofibromatosis

2006 ◽  
Vol 33 (3) ◽  
pp. 328-328
Author(s):  
Navdeep Tangri ◽  
Shireen Sirhan ◽  
Gordon Crelinsten
Keyword(s):  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Large Mass ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Autosomal Dominant Disorder ◽  
Chest Wound ◽  
History Of ◽  
The Right

Neurofibromatosis Type I or von Recklinghausen’s neurofibromatosis is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. We present a case of sepsis secondary to an infected hematoma, enclosed within a massive neurofibroma.A 42-year-old man presented to the emergency department with a one week history of fever and chills. He reported an increase in pain and size of a growth near his chest. The patient was noted to be febrile on arrival. On physical examination, a very large neurofibroma was seen extending from the right upper chest. Wound and blood cultures were obtained. Computed Tomography (CT) of the thorax revealed a hematoma contained within the large mass.

scholarly journals “Old wine in a new bottle” - post COVID-19 infection, central serous chorioretinopathy and the steroids

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Srinivasan Sanjay ◽  
Poornachandra B. Gowda ◽  
Bhimasena Rao ◽  
Deepashri Mutalik ◽  
Padmamalini Mahendradas ◽  
...  
Keyword(s):  
Virus Disease ◽  
Anterior Segment ◽  
Central Serous Retinopathy ◽  
Oral Antibiotics ◽  
Rt Pcr ◽  
Case Presentation ◽  
Ocular Manifestations ◽  
Corrected Distance Visual Acuity ◽  
History Of ◽  
The Right

Abstract Introduction Corona virus disease (COVID-19) pandemic can cause myriad of ocular manifestations. We report a case of unilateral multi focal central serous retinopathy, post COVID-19 infection in an Asian Indian female. Case presentation A 42-year-old female presented to us with unilateral blurring, in the right eye (OD), 12 days after COVID-19 infection. She had fever, chills, shortness of breath and cough with tiredness and was COVID- RT PCR positive. She was administered intravenous and oral antibiotics with injection heparin/remdesivir, during her 7 day stay at the hospital. She was also on steroid inhalers. She had no systemic history of note. On ocular evaluation, her corrected distance visual acuity was 20/40 in OD and 20/20 in left eye (OS). Anterior segment was normal. Anterior vitreous was clear. Fundus examination of the OD showed central serous retinopathy (CSCR) with OS being normal. Conclusion CSCR can occur post COVID-19 due to steroid administration and physicians administering it should be aware of this and refer the patients to an ophthalmologist earlier.

scholarly journals Amyand's hernia and acute appendicitis: Case presentation in Basic Hospital of Chone

2020 ◽  
Vol 4 (2) ◽  
pp. 19-23
Author(s):  
Orelvis Rodríguez Palmero ◽  
Liseidy Ordaz Marin ◽  
María Del Rosario Herrera Velázquez ◽  
Agustín Marcos García Andrade
Keyword(s):  
Abdominal Pain ◽  
Inguinal Hernia ◽  
Acute Appendicitis ◽  
Physical Examination ◽  
Iliac Fossa ◽  
Amyand’S Hernia ◽  
Case Presentation ◽  
The North ◽  
History Of ◽  
The Right

Present the case of a 66-year-old male patient, with a history of right inguinal hernia, who was referred to the emergency room at the IESS de Chone Basic Hospital in the north of the Manabí province, Ecuador, with symptoms of Abdominal pain of more than 24 hours of evolution located in the right iliac fossa and inguinal region on the same side, in the physical examination the hernia was impossible to reduce, so he was taken to the operating room, in the intervention the cecal appendix was found swollen within the hernial sac, a condition known as Amyand's hernia.

scholarly journals Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Guan-nan He ◽  
Xue-yan Wang ◽  
Min Kang ◽  
Xi-min Chen ◽  
Na Xi ◽  
...  
Keyword(s):  
Septal Defect ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Splice Donor ◽  
Autosomal Dominant Disorder ◽  
Cubitus Valgus ◽  
Case Presentation ◽  
Whole Exome ◽  
The Right ◽  
Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

scholarly journals Scrub typhus with multi-organ dysfunction syndrome and immune thrombocytopenia: a case report and review of the literature

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Weijia Li ◽  
Lei Huang ◽  
Weixing Zhang
Keyword(s):  
Organ Dysfunction ◽  
Immune Thrombocytopenia ◽  
Skin Infection ◽  
Scrub Typhus ◽  
Case Presentation ◽  
Tsutsugamushi Disease ◽  
History Of ◽  
The Right ◽  
Insect Bites ◽  
Multi Organ Dysfunction Syndrome

Abstract Background Scrub typhus is an acute infectious zoonotic disease caused by Orientia tsutsugamushi. Multi-organ dysfunction secondary to scrub typhus is hard to diagnose and has a high mortality rate. Only one case of scrub typhus with multi-organ dysfunction syndrome and immune thrombocytopenia has been reported thus far. In this study, we report a second case of scrub typhus with multi-organ dysfunction syndrome and immune thrombocytopenia, and we summarize its diagnosis and treatment. Case presentation A 43-year-old Han Chinese woman, a sanitation worker, was admitted to our hospital after 7 days of a skin infection and 5 days of a sore throat with fever and dizziness. A physical examination revealed the presence of an eschar on the right side of her neck. She had a history of insect bites during her sanitation work. A diagnostic evaluation identified scrub typhus as the primary illness, which was associated with multi-organ dysfunction syndrome and immune thrombocytopenia. She recovered completely after 15 days of treatment and extensive symptomatic supportive care. Conclusion We report a second case of tsutsugamushi disease with multi-organ dysfunction syndrome and immune thrombocytopenia, which resolved after treatment and extensive care.

P2279First clinical evaluation of subcutaneous implantable cardiac defibrillator in Brugada patients

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
V Probst ◽  
G Clerici ◽  
D Babuty ◽  
N Badenco ◽  
C Marquie ◽  
...  
Keyword(s):  
Primary Prevention ◽  
Secondary Prevention ◽  
Operation Time ◽  
Type I ◽  
Inappropriate Shock ◽  
Icd Implantation ◽  
Pass System ◽  
Increased Risk ◽  
History Of ◽  
The Right

Abstract Background Brugada syndrome (BrS) is an inherited arrhythmia syndrome with an increased risk of SCD. While Subcutaneous ICD (S-ICD) is a seductive approach to treat these patients, questions raised on the risk of inappropriate shock in this specific population. Objective The aim of this study was to evaluate the safety and the effectiveness of the S-ICD in BrS patients. Methods We prospectively enrolled 112 BrS patients implanted with S-ICD in 17 European centers. During the screening at least 2 vectors must be suitable but it was not necessary to check for the suitability of the ECG during sodium channel blocker or exercise test. S-ICD indications follow the current guidelines. Results Mean age of patients was 45±13 years, with 95 (85%) males. Implantation was performed in 91 (83%) patients for primary prevention and in 18 (16%) patients for secondary prevention. There is an indication of ICD replacement for 16 patients (14%): 13 lead defect (81%), 1 infection (6%) and 2 ICD end of life (13%). In this cohort, 57 patients (51%) had spontaneous type I BrS, 60 patients (55%) were symptomatic: 10 resuscitated SCD (17%) and 48 (83%) syncope. Implantation was performed under general anesthesia in 79 patients (71%). The mean operation time was 56±19 min. The lead was placed at the left side of the sternum in 102 patients (92%) and at the right side in 9 (8%). Sensing configuration was the primary vector for 46 patients (41%), secondary vector for 57 (51%) and alternative vector for 9 (8%). No complications occurred during implantation. During a mean follow-up of 15.6 months (0–39 months), 6 patients (5%) had at least one appropriate shock (n=9). The rate of appropriate shock was 4.5%/y. All the VF episodes were successfully treated with the first shock. One patient had VF ablation for recurrent VF. Among the 6 patients who received an appropriate shock, 3 (50%) were implanted for secondary prevention and 3 (50%) were implanted for primary prevention including 2 patients with a history of syncope and one asymptomatic patient. Twelve patients (11%) had at least one inappropriate shock (n=22) including 2 patients with respectively 8 and 4 inappropriate shocks due to T-wave oversensing. With the SMART pass system the first patient had no more inappropriate shock for now 2 years. The rate of inappropriate shock was 9%/y. One patient died of myocardial infarction. Five patients (4%) were hospitalized for complications (4 pocket or scar infections and 1 electrode failure). Conclusion Our initial experience showed that S-ICD is efficient to treat VF episode in BrS patients. In this population, the rate of inappropriate shock was 9%/y. In view of these results, S-ICD implantation seems to be efficient to protect BrS patients against SCD. Acknowledgement/Funding Investigator-Sponsored Research program, Boston Scientific

scholarly journals A Complex Renal Cyst: It Is Time to Call the Oncologist?

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Antonio Granata ◽  
Antonio Basile ◽  
Giuseppe Alessandro Bruno ◽  
Alberto Saita ◽  
Mario Falsaperla ◽  
...  
Keyword(s):  
Hydatid Cyst ◽  
Hydatid Disease ◽  
Rare Case ◽  
Renal Cyst ◽  
Renal Involvement ◽  
Case Presentation ◽  
Magnetic Resonance Scan ◽  
History Of ◽  
The Right ◽  
Vague Abdominal Pain

Introduction. Hydatid disease is a cyclozoonotic parasitic infestation caused by the cestodeEchinococcus granulosus. The cysts mainly arise in the liver (50 to 70%) or lung (20 to 30%), but any other organ can be involved, in abdominal and pelvic locations, as well as in other less common sites, which may make both diagnosis and treatment more complex. Isolated renal involvement is extremely rare.Case Presentation. We report a rare case of isolated renal hydatid disease in a 71-year-old man with a history of vague abdominal pain, anemia, fever, and microhematuria. Ultrasonographic examination revealed a complex cyst in the right kidney, including multiple smaller cysts with internal echoes. A magnetic resonance scan of the abdomen confirmed the findings, and hydatid cyst disease was diagnosed. Right nephrectomy was performed, and microscopic examination confirmed the diagnosis of hydatid cyst. Albendazole, 10 mg/kg per day, was given for 4 weeks (2 weeks preoperatively and 2 weeks postoperatively).Conclusion. Isolated primary hydatidosis of the kidney should always be considered in the differential diagnosis of any cystic renal mass, even in the absence of accompanying involvement of liver or other visceral organs.

scholarly journals Isolated Pulmonary Hydatid Cyst: A Rare Presentation in a Young Maasai Boy from Northern Tanzania

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Jay Lodhia ◽  
Ayesiga Herman ◽  
Rune Philemon ◽  
Adnan Sadiq ◽  
Deborah Mchaile ◽  
...  
Keyword(s):  
Rare Presentation ◽  
Case Presentation ◽  
The Public ◽  
Post Procedure ◽  
Northern Tanzania ◽  
Typical History ◽  
History Of ◽  
One Year ◽  
The Right ◽  
Pulmonary Hydatid Cyst

Introduction. Hydatidosis is a parasitic manifestation caused by Echinococcus granulosus. It is characterized by cystic lesions in the liver and lungs. Diagnosis is based on typical history and radiological measures. Case presentation. A four-year-old boy presented with a one-year history of dry cough and difficulty in breathing which was of gradual progression. Computed tomography of the chest revealed a large 11.7 cm×8.6 cm×11.0 cm cyst in the right hemithorax. The patient underwent thoracotomy and recovered well post procedure. Conclusion. This case report highlights that large hydatid cysts can be surgically removed with good outcome and the importance of realizing that the disease is a burden to the public health and is much neglected.

Lithium prevents grey matter atrophy in patients with bipolar disorder: an international multicenter study

2020 ◽  
pp. 1-10
Author(s):  
Franz Hozer ◽  
Samuel Sarrazin ◽  
Charles Laidi ◽  
Pauline Favre ◽  
Melissa Pauling ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Grey Matter ◽  
Brain Regions ◽  
Anterior Cingulate ◽  
Type I ◽  
Linear Regression Models ◽  
Neuroprotective Effects ◽  
History Of ◽  
International Multicenter Study ◽  
The Right

Abstract Background Lithium (Li) is the gold standard treatment for bipolar disorder (BD). However, its mechanisms of action remain unknown but include neurotrophic effects. We here investigated the influence of Li on cortical and local grey matter (GM) volumes in a large international sample of patients with BD and healthy controls (HC). Methods We analyzed high-resolution T1-weighted structural magnetic resonance imaging scans of 271 patients with BD type I (120 undergoing Li) and 316 HC. Cortical and local GM volumes were compared using voxel-wise approaches with voxel-based morphometry and SIENAX using FSL. We used multiple linear regression models to test the influence of Li on cortical and local GM volumes, taking into account potential confounding factors such as a history of alcohol misuse. Results Patients taking Li had greater cortical GM volume than patients without. Patients undergoing Li had greater regional GM volumes in the right middle frontal gyrus, the right anterior cingulate gyrus, and the left fusiform gyrus in comparison with patients not taking Li. Conclusions Our results in a large multicentric sample support the hypothesis that Li could exert neurotrophic and neuroprotective effects limiting pathological GM atrophy in key brain regions associated with BD.

scholarly journals Primary leiomyoma of the ureter: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Shingo Morinaga ◽  
Shigeyuki Aoki ◽  
Motoi Tobiume ◽  
Genya Nishikawa ◽  
Hiroyuki Muramatsu ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Histopathological Examination ◽  
Urine Cytology ◽  
Benign Tumors ◽  
Case Presentation ◽  
Old Japanese ◽  
Retrograde Pyelogram ◽  
History Of ◽  
The Right ◽  
Enhanced Computed Tomography

Abstract Background Only 14 cases of leiomyoma with ureteral origin have been reported previously. Such primary leiomyomas often present as hydronephrosis, making the diagnosis difficult. Radical nephroureterectomy is often performed because of the possible diagnosis of a malignant tumor. We report the 15th case of primary leiomyoma with a ureteral origin. Case presentation A 51-year-old Japanese man presented with a chief complaint of asymptomatic gross hematuria with a history of hypertension. Enhanced computed tomography showed a tumor at the upper part of the right ureter that appeared to be the cause of hydronephrosis and contracted kidney; no retroperitoneal lymphadenopathy and distal metastasis were observed. A well-defined 20-mm (diameter) defect was identified at the upper of the right ureter on retrograde pyelogram with no bladder cancer on cystoscopy. Urine cytology and right divided renal urine cytology findings were negative. Laparoscopic nephroureterectomy was performed, and the extracted tumor measured 20 × 13 mm. Histopathological examination revealed primary leiomyoma with no recurrence 16 months after the operation. Conclusions Preoperative examination with the latest available ureteroscopic technology can help preserve renal function in the case of benign tumors by enabling preoperative ureteroscopic biopsy or intraoperative rapid resection. Moreover, nephroureterectomy is recommended in the case of preoperative suspicion of ureteral malignant tumors.

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