Duodeno-jejunal Intussusception with Acute Pancreatitis in Peutz-Jeghers Syndrome: The First Case Presentation in Childhood

Background: Acute pancreatitis is an uncommon complication of anti-myeloma agents. Ixazomib is a first-in-class oral proteasome inhibitor to receive regulatory approval for the treatment of multiple myeloma. This case report describes the first case of ixazomib-associated pancreatitis. Case Presentation: An 80-year-old female with relapsed multiple myeloma presented with severe diarrhea, nausea, vomiting, abdominal pain, and acute renal failure 3 weeks after starting ixazomib and dexamethasone for disease progression. An extensive workup revealed acute pancreatitis without a definitive cause. Her condition improved with supportive measures and the discontinutation of ixazomib. The latter was suspected as the probable etiology of the patient's acute pancreatitis, given no clear alternative causes and the temporal relationship between initiating ixazomib and the development of her symptoms. Conclusions: Practitioners should include acute pancreatitis as part of their differential diagnosis in patients on ixazomib treatment who present with gastrointestinal symptoms.

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Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

BMC Ophthalmology ◽

10.1186/s12886-021-01814-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Karen Bitton ◽

J.-L. Bacquet ◽

F. Amoroso ◽

S. Mrejen ◽

M. Paques ◽

...

Keyword(s):

Valsalva Maneuver ◽

Post Partum ◽

Pathologic Myopia ◽

Pathological Myopia ◽

Case Presentation ◽

Sudden Loss ◽

Corrected Visual Acuity ◽

First Case ◽

History Of ◽

Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

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Emphysematous pyelonephritis with air bubble in the inferior vena cava

African Journal of Urology ◽

10.1186/s12301-020-00081-2 ◽

2020 ◽

Vol 26 (1) ◽

Author(s):

Tiffany A. Perkins ◽

Alberic Rogman ◽

Murali K. Ankem

Keyword(s):

Septic Shock ◽

Inferior Vena Cava ◽

Inferior Vena ◽

Vena Cava ◽

Rare Presentation ◽

Emphysematous Pyelonephritis ◽

Case Presentation ◽

Air Bubble ◽

First Case ◽

The Right

Abstract Background Emphysematous pyelonephritis (EPN) with gas in the inferior vena cava (IVC) is a rare presentation and to our knowledge, this is the first case report in the urologic literature. Case presentation A 35-Year-old obese diabetic Hispanic female presented to the emergency room with a clinical picture of septic shock. Prompt computerized tomography scan revealed EPN with gas throughout the right renal parenchyma and extending to the right renal vein, IVC, and pulmonary artery. She died before surgical intervention Conclusion This case demonstrates that patients presenting with severe EPN have a high mortality risk and providers should acknowledge that septic shock, endogenous air emboli, or a combination of both could result in cardiovascular collapse and sudden death.

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Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

African Journal of Urology ◽

10.1186/s12301-021-00172-8 ◽

2021 ◽

Vol 27 (1) ◽

Author(s):

Jai Kumar ◽

Mohammad Irfaan Albeerdy ◽

Nadeem Ahmed Shaikh ◽

Abdul Hafeez Qureshi

Keyword(s):

Urinary Bladder ◽

Filling Defect ◽

Hamartomatous Polyps ◽

Case Presentation ◽

Rare Case Report ◽

Mucocutaneous Pigmentation ◽

Dominant Disease ◽

Peutz Jeghers Syndrome ◽

Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

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Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

Surgical Case Reports ◽

10.1186/s40792-021-01262-z ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Atsushi Takeno ◽

Toru Masuzawa ◽

Shinsuke Katsuyama ◽

Kohei Murakami ◽

Kenji Kawai ◽

...

Keyword(s):

Gastric Cancer ◽

Situs Inversus ◽

Autosomal Recessive ◽

Intraoperative Complications ◽

Proximal Gastrectomy ◽

Situs Inversus Totalis ◽

Upper Body ◽

Robot Assisted ◽

Case Presentation ◽

First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

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Fetal pulmonary choristoma: report of first case and literature review

Case Reports in Perinatal Medicine ◽

10.1515/crpm-2020-0072 ◽

2020 ◽

Vol 9 (1) ◽

Author(s):

Anupam Nanda ◽

Rajinder Nanda ◽

Seema Thakur ◽

Tej Prakash Gupta ◽

Sudhir Jain ◽

...

Keyword(s):

Literature Review ◽

Exome Sequencing ◽

Posterior Fossa ◽

Spinal Column ◽

Fetal Autopsy ◽

Case Presentation ◽

Antenatal Ultrasound ◽

Clinical Exome Sequencing ◽

First Case ◽

Pathologic Findings

AbstractObjectivesLung tissue choristoma is a very rare disorder where mature lung tissues develop in the site not normal to the lung.Case presentationWe hereby report a first case of fetal pulmonary choristoma in a 23–24 weeks fetus where antenatal ultrasound showed a mass in posterior fossa with severe ventriculomegaly. The mass extended inferiorly in cervical spinal column and thereafter extended in the skin over the back of fetus. Fetal autopsy confirmed these findings. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli. Clinical exome sequencing showed normal results.ConclusionsWe describe the antenatal ultrasound, fetal autopsy and pathologic findings of an intracranial and cutaneous pulmonary choristoma.

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

African Journal of Urology ◽

10.1186/s12301-020-00090-1 ◽

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.

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

Pediatric Neurosurgery ◽

10.1159/000517652 ◽

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

Introduction: 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. Case Presentation: 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. Discussion/Conclusion: 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.

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Solitary Peutz-Jeghers Type Polyp of Jejunum with Gastric Fundic and Antral Gland Lining Mucosa: A Case Report and Review of Literature

International Journal of Surgical Pathology ◽

10.1177/10668969211067760 ◽

2021 ◽

pp. 106689692110677

Author(s):

Bella Lingjia Liu ◽

Huifang Zhou ◽

Martina Risech ◽

Alex Ky ◽

Jane Houldsworth ◽

...

Keyword(s):

Family History ◽

Small Bowel ◽

Smooth Muscles ◽

Fundic Gland ◽

Muscularis Mucosa ◽

Hamartomatous Polyp ◽

Gi Tract ◽

First Case ◽

Mucocutaneous Pigmentation ◽

Peutz Jeghers Syndrome

Solitary Peutz-Jeghers type polyps are characterized by a hamartomatous polyp of the gastrointestinal (GI) tract in a patient without mucocutaneous pigmentation, family history of Peutz-Jeghers syndrome, or STK11/LKB1 mutations. Histologically identical to the polyps in Peutz-Jeghers syndrome, these sporadic polyps can arise anywhere along the GI tract, with typical arborizing smooth muscles extending from the muscularis mucosa. While the lining mucosa is generally the same as the organ in which it arises, gastric pyloric and osseous metaplasia have been reported in intestinal polyps in Peutz-Jeghers syndrome. Herein, the authors report the first case of a small intestinal solitary Peutz-Jeghers type polyp with gastric antral and fundic gland lining mucosa. A 43-year-old male was admitted for small bowel obstruction. Diagnostic laparoscopy revealed jejuno-jejunal intussusception with an associated polyp measuring 7.2 cm. Histological examination showed a hamartomatous polyp with arborizing smooth muscle bundles extending from the muscularis mucosae. The polyp was lined by non-dysplastic gastric antral and fundic gland mucosa, and was sharply demarcated from the adjacent non-polypoid intestinal mucosa. Colonoscopy, esophagogastroduodenoscopy and small bowel enteroscopy revealed no additional polyps or masses. Thorough investigation of the patient's family history was negative for Peutz-Jeghers syndrome or mucocutaneous pigmentation. Molecular analysis of the lesion was negative for STK11/LKB1 mutations. A diagnosis of solitary Peutz-Jeghers type polyp of the small bowel with gastric antral and fundic gland mucosal lining was rendered.

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BRAF-MAD1L1 and BRAF-ZC3H7A: novel gene fusion in Rhabdomyosarcoma and Lung adenocarcinoma

10.21203/rs.3.rs-368083/v1 ◽

2021 ◽

Author(s):

Jiang Da ◽

Hui Jin ◽

Xinliang Zhou ◽

Shaoshuang Fan ◽

Mian Xu ◽

...

Keyword(s):

Lung Adenocarcinoma ◽

Gene Fusion ◽

Tumor Resection ◽

Kinase Domain ◽

Rapid Progression ◽

First Line ◽

Case Presentation ◽

First Case ◽

Exon 11 ◽

Domain Exon

Abstract Background: Rhabdomyosarcoma (RMS) and lung adenocarcinoma (LADC) epitomizes the success of cancer prevention by the development of conventional therapy, but huge challenges remain in the therapy of advanced diseases.Case presentation: We reported two cases of novel BRAF gene fusion. The first case was a 34-year-old female with RMS harboring a BRAF-MAD1L1 fusion. She suffered tumor resection, recurrence and rapid progression. The second case was a 72-year-old female with LADC harboring a BRAF-ZC3H7A fusion, and she gained rapid progression after receiving a first-line course of chemotherapy.Conclusions: These two BRAF fusions retain the intact BRAF kinase domain (exon 11-18) and showed poor prognosis in RMS and LADC.

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