scholarly journals Multimodality lymphatic imaging of postoperative chylothorax in an infant with Noonan syndrome: a case report

2020 ◽  
Vol 25 (1) ◽  
Author(s):  
Kay T. Pham ◽  
Duraisamy Balaguru ◽  
Varaha S. Tammisetti ◽  
Carlos J. Guevara ◽  
John C. Rasmussen ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Near Infrared ◽  
Surgical Intervention ◽  
Multimodality Imaging ◽  
Rare Complication ◽  
Genetic Disorder ◽  
Case Presentation ◽  
Drainage Patterns ◽  
Lymphatic Imaging ◽  
Cardiac Operations

Abstract Background Chylothorax is a rare complication of pediatric cardiac operations that occurs more frequently in children with Noonan syndrome, a genetic disorder associated with cardiac defects and lymphatic anomalies. Case presentation We report a case of postoperative chylothorax in a 6-month-old infant with Noonan syndrome where multimodality lymphatic imaging guided management was followed. Drainage patterns of the lymphatic capillaries in the lower and upper extremities were visualized during near-infrared fluorescence lymphatic imaging (NIRFLI). Dynamic magnetic resonance lymphangiography (MRL) further identified the site of leakage in the thoracic duct and subsequently guided surgical intervention. Conclusions Application of multimodality imaging allows for greater individualization of treatment and should be considered in patients with complex cases such as those with syndromes associated with a higher incidence of chylothorax. IRB Number: HSC-MS-13–0754, December 10, 2013

scholarly journals Case Presentation - Biventricular Hypertrophy and Valvular Pulmonary Stenosis in Adult Patient with Noonan Syndrome: A Rare Case

2021 ◽  
Vol 2 (2) ◽  
pp. 77
Author(s):  
Tinton Pristianto ◽  
Rosi Amrilla Fagi
Keyword(s):  
Noonan Syndrome ◽  
Pulmonary Valve ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Nasolabial Fold ◽  
Pulmonary Valve Stenosis ◽  
Case Presentation ◽  
Valvular Pulmonary Stenosis ◽  
Chest Deformities

Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital abnormalities. The prevalence of NS at live birth has been reported as one in 1000-2500 individuals. About 80% of patients with Noonan syndrome have abnormalities in the cardiovascular system.Case presentation:41-year-old Javanese male presented with chief complaint shortness of breath.  His Body Mass Index (BMI) was 18,3. He had an oval-shaped face with a short neck, thin hair, and prominent nasolabial fold. Echocardiography showed biventricular hypertrophy alongside pulmonary valve stenosis, pulmonary regurgitation and minimal pericardial effusion. Discussion: In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were very similar, had short stature, significant chest deformities, and with pulmonary stenosis. Noonan syndrome is a relatively common non-chromosomal syndrome that is similar to the phenotype of Turner's syndrome and presents with cardiovascular malformations. Adult with NS has distinctive facial features such as ptosis, wide eyes, low posterior rotation of ears and helical thickening, and a wide neck.Pulmonary stenosis is the most common heartdefect found in NS, besides HCM isalsoquitecommon inabout20% of patients. We reported a case of a patient with typical characteristics of NS such as pulmonary valve stenosis accompanied by biventricular ventricular hypertrophyand its typical face who survived through adulthood.Conclusion: Syndrome Noonan in the adult is quite rare and difficult to diagnose. We reported a case of an adult man with facial appearance and echocardiographic findings identical with Noonan Syndrome.

scholarly journals An Unusual Presentation of Cholecystoduodenal Fistula: Abdominal Pain out of Proportion to Exam

2019 ◽  
Vol 3 (3) ◽  
pp. 305-306
Author(s):  
Ryan McCreery ◽  
Matthew Meigh
Keyword(s):  
Abdominal Pain ◽  
Multimodality Imaging ◽  
Rare Complication ◽  
Gallbladder Disease ◽  
Final Diagnosis ◽  
Cholecystoduodenal Fistula ◽  
Case Presentation ◽  
History Of ◽  
Biliary Enteric Fistula ◽  
Specific Symptoms

Cholecystoduodenal fistula (CDF) is a rare complication of gallbladder disease. Clinical presentation is variable, and preoperative diagnosis is challenging due to the non-specific symptoms of CDF. We discuss a 61-year-old male with a history of atrial fibrillation who presented with severe abdominal pain out of proportion to exam. The patient was diagnosed promptly and successfully managed non-operatively. This case presentation emphasizes the need to maintain a broad differential diagnosis for abdominal pain out of proportion to exam, with the possibility of a biliary-enteric fistula as a possible cause. It also stresses the importance of a multimodality imaging approach to arrive at a final diagnosis.

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

scholarly journals COVID-19 related mortality in post-operative cardiac surgical patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Azhar Hussain ◽  
Amina Khalil ◽  
Priyanka Kolvekar ◽  
Prity Gupta ◽  
Shyamsunder Kolvekar
Keyword(s):  
Cardiac Surgery ◽  
Long Term Outcomes ◽  
Case Presentation ◽  
Elective Cardiac Surgery ◽  
The United Kingdom ◽  
Global Pandemic ◽  
Cardiac Operations ◽  
Related Mortality

Abstract Background COVID-19 has caused a global pandemic of unprecedented proportions. Elective cardiac surgery has been universally postponed with only urgent and emergency cardiac operations being performed. The National Health Service in the United Kingdom introduced national measures to conserve intensive care beds and significantly limit elective activity shortly after lockdown. Case presentation We report two cases of early post-operative mortality secondary to COVID-19 infection immediately prior to the implementation of these widespread measures. Conclusion The role of cardiac surgery in the presence of COVID-19 is still very unpredictable and further studies on both short term and long term outcomes are warranted.

scholarly journals First reported case of penile prosthesis infection from brucellosis: case report

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Nabil Nabil Moohialdin ◽  
Ahmad Shamsodini ◽  
Steven K. Wilson ◽  
Osama Abdeljaleel ◽  
Ibrahim Alnadhari ◽  
...  
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Surgical Intervention ◽  
Penile Prosthesis ◽  
Raw Milk ◽  
Prosthesis Infection ◽  
Case Presentation ◽  
First Case ◽  
Milk Ingestion

Abstract Background Infection after the penile prosthesis can be devastating to both the patient and surgeon with various complications and consequences. After introduction of antibiotic-coated implants, the rate of infection has dramatically decreased, but still we see uncommon organisms causing infection. We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. To our knowledge, this is the first reported case of brucellosis penile prosthesis infection. Case presentation We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. A 75-year-old, diabetic male patient presented with penile prosthesis infection 5 months post-penile exchange surgery due to mechanical malfunctioning of 2-piece penile prosthesis which was inserted 11 years ago. The initial treatment with broad spectrum antibiotics did not subside the infection. After diagnosis of brucellosis, the antibiotic was changed to anti-brucellosis (Rifampicin + Tetracycline). The patient improved dramatically and was discharged home with smooth follow-up course. Conclusion Brucellosis can cause infection of penile prosthesis and can be treated with anti-brucellosis antibiotics without necessitating surgical intervention and removal of prosthesis.

scholarly journals Early radical cystectomy with negative margins in a 57-year-old female with myxoid/round cell liposarcoma of the bladder suggests prolonged overall survival

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Johannes Eduard Delport ◽  
Khanyisa Makamba
Keyword(s):  
Overall Survival ◽  
Surgical Intervention ◽  
Radical Surgery ◽  
Bladder Tumour ◽  
Eastern Cape ◽  
Round Cell ◽  
Female Population ◽  
Case Presentation ◽  
Rural Town ◽  
Common Cancer

Abstract Background Bladder cancer is the 17th most common cancer in the female population. Most bladder cancers are of urothelial origin. Sarcomas of the bladder are very uncommon. Case presentation This case concerns a 57-year-old female from a rural town in the Eastern Cape who was diagnosed with myxoid/round cell liposarcoma of the bladder. After the initial transurethral resection of the bladder tumour, she underwent an anterior exenteration with Bricker’s diversion (ileal conduit) and negative margins were achieved. Conclusions Sarcomas of the bladder are known to have a poor prognosis. Our patient is alive with good stoma function more than 24 months since her radical surgery. We are of the opinion that her favourable overall survival is attributable to early radical surgical intervention with negative margins.

scholarly journals Surgical procedure for unexpected balloon burst complication during endoscopic balloon dilatation in a patient with common bile duct stones

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Koji Morishita ◽  
Hideaki Sasaki
Keyword(s):  
Bile Duct ◽  
Common Bile Duct ◽  
Balloon Dilatation ◽  
Rare Complication ◽  
Common Bile Duct Stones ◽  
Endoscopic Retrograde ◽  
Case Presentation ◽  
Endoscopic Balloon Dilatation ◽  
Cbd Stones ◽  
Endoscopic Balloon

Abstract Background Endoscopic balloon dilatation (EBD) is the established treatment for common bile duct (CBD) stones. Although pancreatitis and bleeding have been reported as major complications of EBD, balloon-related complications are rarely reported in EBD. Case presentation A 30-year-old woman with suspected CBD stones underwent endoscopic retrograde cholangiopancreatography (ERCP) and EBD. During EBD, the balloon of the EBD catheter suddenly burst at the biliary sphincter. We therefore performed surgical intervention: removal of the broken EBD catheter and T-tube drainage. Finally, the patient was discharged without any complications. Conclusions We present a case involving a burst balloon of an EBD catheter as a rare complication during EBD, as well as the surgical technique that was used to treat this complication.

Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression

2021 ◽  
pp. 1-6
Author(s):  
Flavio Giordano ◽  
Matteo Lenge ◽  
Pierarturo Donati ◽  
Lorenzo Mongardi ◽  
Gianpiero Di Giacomo ◽  
...  
Keyword(s):  
Fecal Incontinence ◽  
Neurogenic Bladder ◽  
Genetic Disorder ◽  
Motor Impairment ◽  
Foramen Magnum ◽  
Clinical Findings ◽  
Lumbar Stenosis ◽  
Endochondral Bone ◽  
Case Presentation ◽  
First Case

<b><i>Introduction:</i></b> Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spinal stenosis is frequent and due to premature fusion of the pedicles to the laminae. <b><i>Case Presentation:</i></b> We report a case of neurogenic bladder and fecal incontinence due to lumbar stenosis successfully treated with L1–L5 partial laminectomy and foraminotomy in a 7-year-old achondroplasic child. <b><i>Discussion/Conclusion:</i></b> To our knowledge, this is the first case report of exclusive neurogenic bladder and fecal incontinence in an achondroplasic child. Neurogenic bladder and fecal incontinence without motor impairment may be early and exclusive clinical findings of lumbar stenosis in children with achondroplasia.

In-Silico and In-vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome – A Novel Approach to Explore the Molecular Pathways

2021 ◽  
Vol 22 ◽  
Author(s):  
Vinoth Sigamani ◽  
Sheeja Rajasingh ◽  
Narasimman Gurusamy ◽  
Arunima Panda ◽  
Johnson Rajasingh
Keyword(s):  
Noonan Syndrome ◽  
In Silico ◽  
Genetic Disorder ◽  
In Vitro Study ◽  
Human Skin Fibroblast ◽  
Nucleotide Polymorphisms ◽  
Gene Expressions ◽  
Single Nucleotide ◽  
Nucleotide Mutation

Aims: Noonan syndrome (NS) is an autosomal dominant genetic disorder caused by single nucleotide mutation in PTPN11, SOS1, RAF1, and KRAS genes. Background: We hypothesize that in-silico analysis of human SOS1 mutations would be a promising predictor in identifying the pathogenic effect of NS. Methods: Here, we computationally analyzed the SOS1 gene to identify the pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) to cause NS. The variant information of SOS1 was collected from the SNP database (dbSNP). The variants were further analyzed by in-silico tools I-Mutant, iPTREE-STAB, and MutPred to elucidate their structural and functional characteristics. Results: We found that 11 nsSNPs of SOS1 were more pathogenic to cause NS. The 3D modeling of the wild-type and the 11 nsSNPs were performed using I-TASSER and validated via ERRAT and RAMPAGE. SOS1 interacting proteins were analysed through STRING, which showed that SOS1 interacted with cardiac proteins GATA4, TNNT2, and ACTN2. During these interactions, GRB2 and HRAS act as an intermediate molecules between SOS1 and cardiac proteins. These in-silico analyses were validated using induced cardiomyocytes (iCMCs) derived from NS patients carrying SOS1 gene variant c.1654A>G (NS-iCMCs) and compared with control human skin fibroblast-derived iCMCs (C-iCMCs). Our in vitro data further confirmed that the SOS1, GRB2 and HRAS gene expressions as well as the activated ERK protein, were significantly decreased in NS-iCMCs compared to C-iCMCs. Conclusion: This is the first in-silico and in vitro study demonstrating that 11 nsSNPs of SOS1 were playing a deleterious pathogenic role in causing NS.

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