OpenMed/multicare-articles huggingface dataset:
Sirolimus: A Successful Medical Treatment for Head and Neck Lymphatic Malformations
Authors: Steven Curry, Andrew Logeman, Dwight Jones
Journal: Case Rep Otolaryngol (2019)
MeSH terms: Case Reports

Lymphatic malformations are abnormalities that arise in the developing lymphatic system, most frequently presenting in the head and neck. They are typically treated with sclerotherapy, laser therapy, or surgery for localized lesions. Sirolimus, an inhibitor of the mammalian target of rapamycin, is a relatively new medical therapy for the treatment of vascular malformations. This case report presents the improvements and complications seen in a female infant who was diagnosed with a large lymphatic malformation on prenatal ultrasound and has been treated with sirolimus during the first 9 months of life.
Spontaneous closure of patent ductus arteriosus after an episode of Kawasaki disease: a case report
Authors: Ming-Chih Lin, Yun-Ching Fu, Sheng-Ling Jan
Journal: J Med Case Rep (2012)

Introduction:
Kawasaki disease is regarded as systemic vasculitis. Many experts believe that not only coronary arteries but also other small arteries are involved during the period of systemic inflammation. However, the evidence to support this point view is limited.
Case presentation:
We report the case of a one-year-four-month-old Taiwanese girl whose patent ductus arteriosus was incidentally found during an episode of Kawasaki disease. The ductus closed spontaneously after the acute phase of Kawasaki disease.
Conclusions:
In this patient, the patent ductus arteriosus may have closed spontaneously after Kawasaki disease due to its involvement in the generalized vasculitis that this disease incurs. This would support the theory that the vasculitis of Kawasaki disease is limited not only to coronary arteries but also to all medium- sized arteries.
Bilateral Ampiginous Choroiditis following Presumed SARS-CoV-2 Infection
Authors: Elysse S Tom, K Matthew McKay, Steven S Saraf
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Purpose:
To report a case of bilateral ampiginous choroiditis following presumed SARS-CoV-2 infection. Case Description. A 25-year-old woman presented with metamorphopsia and a paracentral scotoma in her left eye. She endorsed night sweats, headache, and new-onset anosmia beginning 1 week before her visual symptoms. She also had multiple confirmed ill COVID-19 contacts at her workplace before the onset of her symptoms. Funduscopic examination and multimodal imaging revealed placoid lesions in the macula and midperiphery of both eyes consistent with ampiginous choroiditis. COVID-19 antibody testing returned positive for IgG, and an extensive systemic evaluation was otherwise unremarkable. She was treated with oral prednisone and azathioprine with stabilization of the retinal lesions and no progression of her symptoms.
Conclusions:
Ampiginous choroiditis is an inflammatory chorioretinopathy with an unknown pathogenic mechanism that often necessitates early immunomodulatory therapy. This report suggests that SARS-CoV-2 infection may trigger chorioretinal inflammation in susceptible hosts.
Orbital metastatic neuroblastoma presenting as posttraumatic exophthalmos
Authors: Ana Maria Frunză, Ovidiu Samoilă
Journal: Rom J Ophthalmol (2020)
Keywords: exophthalmia, neuroblastoma, orbit, trauma
MeSH terms: Abdominal Neoplasms / pathology, Brain Injuries / diagnosis, Exophthalmos / diagnosis, Neuroblastoma / secondary, Orbital Neoplasms / secondary, Case Reports, Abdominal Neoplasms / diagnostic imaging, Abdominal Neoplasms / drug therapy, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Biopsy, Fine-Needle, Child, Preschool, Diagnosis, Differential, Fatal Outcome, Female, Humans, Magnetic Resonance Imaging, Neuroblastoma / diagnostic imaging, Neuroblastoma / drug therapy, Orbital Neoplasms / diagnostic imaging, Orbital Neoplasms / drug therapy, Tomography, X-Ray Computed

A 2-year-old female patient with a recent history of head trauma was admitted to the Ophthalmology Clinic with left exophthalmos. A differential diagnosis between traumatic and tumoral etiology was made. The orbitocranial MRI and fine needle ganglion biopsy settled the malignant etiology of the exophthalmia. Further investigations at the Pediatric Oncology Clinic decided on the diagnosis of orbital metastatic neuroblastoma. This case report presented an unusual association: orbital metastatic neuroblastoma becoming clinically positive soon after a head trauma.
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts
Authors: Xu Ma, Fei-Feng Li, Shu-Zhen Wang, Chang Gao, Meng Zhang, Si-Quan Zhu
Journal: Mol Vis (2008)
MeSH terms: Amino Acid Substitution, Cataract / congenital, Cataract / genetics, Eye Proteins / genetics, Genes, Dominant, Intermediate Filament Proteins / genetics, Mutation / genetics, Case Reports, Research Support, Non-U.S. Gov't, Alanine / genetics, Amino Acid Sequence, Base Sequence, Child, Chromatography, High Pressure Liquid, Chromosomes, Human, Pair 3 / genetics, DNA Mutational Analysis, Eye Proteins / chemistry, Female, Genetic Linkage, Glycine / genetics, Haplotypes, Humans, Intermediate Filament Proteins / chemistry, Lod Score, Male, Molecular Sequence Data, Pedigree, Protein Denaturation, Sequence Alignment, Eye Proteins, Intermediate Filament Proteins, phakinin, Alanine, Glycine

Purpose:
We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware of a candidate gene in the family.
Methods:
Family history data were recorded. Clinical and ophthalmologic examinations were performed on family members. All the members were genotyped with microsatellite markers at loci considered to be associated with cataracts. Two-point LOD scores were calculated by using the Linkage Software after genotyping. A mutation was detected by using gene-specific primers in direct sequencing. Wild type and mutant proteins were analyzed with Online Bio-Software.
Results:
Affected members of this family had lamellar cataracts. Linkage analysis was obtained at markers D3S2322 (LOD score [Z]=7.22, recombination fraction [theta]=0.0) and D3S1541 (Z=5.42, theta=0.0). Haplotype analysis indicated that the cataract gene was closely linked to these two markers. Sequencing the beaded filament structural protein 2 (BFSP2) gene revealed a G>A transversion in exon 5, which caused a conservative substitution of Arg to His at codon 339 (P.R339H). This mutation cosegregated with the disease phenotype in all affected individuals and was not observed in the unaffected family members or in 100 normal, unrelated individuals. Bioinformatic analyses showed that a highly conserved region was located around Arg339. Data generated with Online Bio-Software revealed that the mutation altered the protein's hydrophobicity, hydrophobic moment, and chaperone and regulation activities.
Conclusions:
This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2. It highlights the physiologic importance of the beaded filament protein and demonstrates a possible mechanism of action for the mutant gene.
Translocation of an intrauterine contraceptive device: incidental finding in the rectosigmoid colon
Authors: R Vilallonga, N Rodriguez, M Vilchez, M Armengol
Journal: Obstet Gynecol Int (2010)
MeSH terms: Case Reports

The presence of an intrauterine device (IUD) within the colon is rare. Complications have been reported with IUDs among which uterine perforation. Translocation of IUDs to the uterine cavity, to the bladder and also through the wall of the bowel, and sigmoid colon has been reported. We believe there may be a case that surgeons should know the result of despite being a priori gynaecological complication. This paper reports on a case of colon perforation by an IUD.
A case of azoospermia in a non-destructive testing worker exposed to radiation
Authors: Jaechan Park, Sanggil Lee, Chulyong Park, Huisu Eom
Journal: Ann Occup Environ Med (2017)
Keywords: azoospermia, cytogenetic dosimetry, male infertility, non-destructive testing, occupational disease, radiation
MeSH terms: Case Reports

Background:
Interest in radiation-related health problems has been growing with the increase in the number of workers in radiation-related jobs. Although an occupational level of radiation exposure would not likely cause azoospermia, several studies have reported the relation between radiation exposure and azoospermia after accidental or therapeutic radiation exposure. We describe a case of azoospermia in a non-destructive testing (NDT) worker exposed to radiation and discuss the problems of the related monitoring system.
Case presentation:
A 39-year-old man who was childless after 8 years of marriage was diagnosed with azoospermia through medical evaluations, including testicular biopsy. He did not have any abnormal findings on biochemical evaluations, other risk factors, or evidence of congenital azoospermia. He had been working in an NDT facility from 2005 to 2013, attaching and arranging gamma-ray films on the structures and inner spaces of ships. The patient's thermoluminescent dosimeter (TLD) badge recorded an exposure level of 0.01781 Gy for 80 months, whereas results of his florescence in situ hybridization (FISH) translocation assay showed an exposure level of up to 1.926 Gy of cumulative radiation, which was sufficient to cause azoospermia. Thus, we concluded that his azoospermia was caused by occupational radiation exposure.
Conclusion:
The difference between the exposure dose records measured through TLD badge and the actual exposure dose implies that the monitor used by the NDT worker did not work properly, and such a difference could threaten the health and safety of workers. Thus, to protect the safety and health of NDT workers, education of workers and strengthening of law enforcement are required to ensure that regulations are strictly followed, and if necessary, random sampling of NDT workers using a cytogenetic dosimeter, such as FISH, should be considered.
Point of Care Ultrasound in Pyogenic Tenosynovitis: A Case Report
Authors: Richard Amini, Luis Camacho, Josie Acuña, Elaine H Situ-La Casse, Srikar Adhikari
Journal: Bull Emerg Trauma (2020)
Keywords: bedside ultrasound, point of care, pyogenic tenosynovitis, septic tenosynovitis, tenosynovitis
MeSH terms: Case Reports

Pyogenic tenosynovitis is caused by hematogenous spread of infection or trauma with direct inoculation of a tendon sheath. Symptoms and clinical examination findings associated with pyogenic tenosynovitis may be confused with superficial soft tissue infections, however management plans between pyogenic tenosynovitis and superficial soft tissue infection vary significantly. In patients with pyogenic tenosynovitis, operative intervention and subsequent irrigation and debridement offer a definitive therapy. Bedside ultrasound helps clinicians inspect the involved tendon sheath and may help assisting diagnosis of pyogenic tenosynovitis. In this case report, we described three cases, where point of care ultrasound was used to assist the diagnosis of pyogenic tenosynovitis, to accelerate consultation, and to expedite operative intervention.
A case of synchronous association of a jejunal stromal tumor and a colic adenocarcinoma
Authors: Refeno Valéry, Hasiniatsy Nomeharisoa Rodrigue Emile, Ramahandrisoa Andriatsihoarana Voahary Nasandratriniavo, Ramanampamonjy Rado Manitrala, Samison Luc Hervé, Rafaramino Florine
Journal: Pan Afr Med J (2019)
Keywords: adenocarcinoma, association, stromal tumors, surgery, synchronous
MeSH terms: Adenocarcinoma / diagnosis, Colonic Neoplasms / diagnosis, Gastrointestinal Stromal Tumors / diagnosis, Jejunal Neoplasms / diagnosis, Case Reports, Adenocarcinoma / pathology, Adenocarcinoma / surgery, Aged, Colectomy, Colonic Neoplasms / pathology, Colonic Neoplasms / surgery, Colonoscopy, Gastrointestinal Hemorrhage / etiology, Gastrointestinal Stromal Tumors / pathology, Gastrointestinal Stromal Tumors / surgery, Humans, Jejunal Neoplasms / pathology, Jejunal Neoplasms / surgery, Male, Neoplasms, Multiple Primary

Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract. They are generally considered as solitary tumors. Here we report the case of a 66-year-old man with familial history of digestive cancers, admitted after a 2-months history of gastrointestinal bleeding. Colonoscopy showed a circumferential ulcerated tumor of the sigmoid which was a well differentiated adenocarcinoma on biopsy. Computerized tomography showed only the lesion of the sigmoid. The patient underwent a left colectomy followed by immediate end-to-end anastomosis. Per-operatively, jejunal mass was discovered and a jejunal segmentectomy was performed. Pathologic examination revealed a colic adenocarcinoma pT2N0M0 associated with a low risk stromal tumor of the jejunum CD117+ and DOG-1+. No adjuvant therapy was given. After 64 months of follow-up, the patient showed no evidence of recurrence. Clinicians should be aware of the coexistence of malignancies and carry careful investigations for accurate diagnosis and better patients' prognosis.
Agenesis of the right hepatic lobe
Authors: Lucas Souto Nacif, Yuri Dos Santos Buscariolli, Luiz Augusto Carneiro D'Albuquerque, Wellington Andraus
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Introduction. Agenesis of the right lobe of the liver is a rare finding and was defined as the absence of liver tissue on the right side, with preservation of the middle hepatic vein, without previous disease or surgery. It is usually an incident finding reveled by imaging exams or during abdominal surgery. Case Report. A 32-year-old male patient was admitted to the hospital for abdominal discomfort and loss of appetite. Imaging studies revealed the absence of the right hepatic lobe and hypertrophied left hepatic segments. Discussion. Anomalies of hepatic morphology are rare and correspond to developmental defects during embryogenesis, are a rare diagnosis, and are generally diagnosed incidentally based on imaging. Agenesis or hypoplasia of the right lobe may predispose the patient to the development of portal hypertension and esophageal varices. Surgical knowledge of such anatomical agenesis is necessary for surgical planning, for the appropriate identification of intraoperative surgical findings, and for the design of the postoperative approach to therapy. Conclusion. Agenesis of the right hepatic lobe is a rare condition. We want to highlight the importance of understanding the condition. Surgeons must recognize the entity in order to deal appropriately with the findings.
Management of Inflammatory Root Resorption of Maxillary Central Incisors following Traumatic Avulsion
Authors: Seyed Mohsen Sadeghi, Samaneh Moradi, Samaneh Soltani
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Background:
Avulsion is among the most severe types of dental trauma, which often occurs at young ages and can compromise the long-term prognosis of the traumatized tooth. Case Report. Herein, we report replantation of two avulsed teeth. Our patient was an 11-year-old boy with two avulsed maxillary central incisors due to a bicycle fall 2 months earlier. The patient was referred to us after rigid splinting of his teeth by a surgeon. Long-term calcium hydroxide (CH) therapy was performed for the patient, and after healing of periodontal ligament (PDL), apexification was performed for both teeth followed by root canal therapy. During the 2-year follow-up, both teeth were functional and had no radiographic or clinical evidence of resorption or ankylosis.
Conclusion:
The reported case highlights the favorably high tissue healing potential following severe dental trauma, given that appropriate treatment is performed. Correct endodontic management can guarantee the long-term prognosis of teeth following severe dental trauma.
Development of Severe Hyponatremia due to Salt-Losing Nephropathy after Esophagectomy for Esophageal Cancer
Authors: Katsunobu Yoshioka, Minako Nishio, Soichi Sano, Katsunobu Sakurai, Keiko Yamagami, Yoshito Yamashita
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

A 72-year-old woman was admitted to our hospital for esophagectomy for esophageal cancer. On the third postoperative day, she developed polyuria (3.8 L/day), massive natriuresis, hyponatremia (112 mEq/L), hyperkalemia (5.6 mEq/L), and decreased central venous pressure, which was refractory to isotonic saline infusion. Laboratory findings indicated proximal tubular injury (high urinary beta2-microglobulin, coexistence of hypouricemia) together with reduced aldosterone action at the cortical collecting duct. A diagnosis of salt-losing nephropathy was made and sodium correction was done with 3% saline and fludrocortisone. She responded well to therapy. The cause of hyponatremia was considered renal tubular dysfunction together with elevated antidiuretic hormone level. Postoperatively, it is important to look for the development of salt-losing nephropathy.
Persistent Left Superior Vena Cava and Absent Right Superior Vena Cava with Left Subclavian Vein Stenosis: Technical Challenges with Pacemaker Implantation
Authors: Khalil Kanjwal, Michael Soos, Daniel Gonzalez-Morales, Ibrahim Shah, Mohan Madala, Majid Mughal, Muhammad Awais Kang
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

We present a challenging case of a 75-year-old female with a history of paroxysmal atrial fibrillation (PAF) and symptomatic sick sinus syndrome (SSS) who presented for a dual chamber pacemaker implantation and was found to have persistent left superior vena cava and absent right superior vena cava with stenosis of the left subclavian vein. In this report, we discuss the implant technique in this group of patients.
Shear Wave Elastography in the Diagnosis of Hand Tumours
Authors: Debora Schivo, Ergys Gjika, Aurélien Traverso, Sébastien Durand
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Diagnosis of hand tumours by conventional imaging remains difficult. Shear wave elastography (SWE) is a noninvasive method used to quantitatively assess the mechanical properties of tissues. We provide the first report of "histoelastographic" data concerning a finger tumour. Our data support the notion of ultrasound assessment using multiple parameters including morphology, elasticity, viscosity, and microflow vascularization likely contributing towards a more precise diagnosis in the future.
Bladder Rupture as a Complication of Circumcision following Total Subcoronal Urethral Ligation
Authors: Asal Hojjat, Sorena Keihani, Amir Hassan Mahboubi, Abdol-Mohammad Kajbafzadeh
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Circumcision is one of the most commonly performed procedures and generally is considered a safe and minor surgery. However, serious and catastrophic complications may sometime occur if adequate attention is not paid to all aspects of this procedure. Bleeding is the most common early complication of circumcision and sometimes is controlled by applying sutures. We hereby report a case of urethral obstruction after deep suturing of the bleeding site performed at a district center that led to bladder rupture as an exceedingly rare complication following circumcision.
Papillary adenocarcinoma of rete testis mimics inflammatory lump: a case report
Authors: Che-An Wu, Yung-Hsiang Chen, Kee-Ming Man, Jui-Lung Shen, Wen-Chi Chen
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

We presented a rare extratesticular neoplasm, papillary adenocarcinoma of rete testis, which manifested variable symptoms and mimicked most frequently seen benign extratesticular lesions. Due to its rarity, the treatment is therefore uncertain. Our patient's clinical manifestations mimicked an inflammatory lump and underwent radical orchiectomy after pathological report had been confirmed. Unlike other reports, our patient survives and has a good outcome. No definite predictor and tumor marker can be used to define the prognosis. Early diagnosis and surgical treatment may have a good outcome.
An unusual presentation of primary hyperparathyroidism: pathological fracture
Authors: Ben Abdelghani Khaoula, Ben Abdelghani Kaouther, Chelly Ines, Turki Sami, Leith Zakraoui, Adel Khedher
Journal: Case Rep Orthop (2011)
MeSH terms: Case Reports

Primary hyperparathyroidism revealed by a pathological fracture is very uncommon. We present a case of a 54-year-old female patient who was admitted with fracture of her right femur. She underwent closed intramedullary reconstruction nailing with bipolar locking. The pathological findings confirmed the diagnosis of primary hyperparathyroidism with brown tumor. Further tests showed increased both calcium level and PTH level. A parathyroidectomy was performed. She made an uneventful recovery and was discharged to home.
Central nervous system involvement in mycosis fungoides: relevance of tcr gene testing in cerebrospinal fluid
Authors: Elisa Giorli, Elisabetta Traverso, Luana Benedetti, Simona Zupo, Bruno Del Sette, Giannamaria Cerruti, Massimiliano Godani
Journal: Springerplus (2014)
Keywords: cns involvement, csf, cerebrospinal fluid, mycosis fungoides, pcr, pcr analisys

Introduction:
Mycosis Fungoides (MF) is a rare malignant T-cell lymphoma, involving mainly the skin. In 50%-75% of cases, it can involve organs other than skin, with a 11%-14% Central Nervous System involvement (CNS).
Case report:
A 82-year-old woman presented to our Department with a 15-years history of MF with skin lesions. Neurological examination showed dysarthria and a left facio-brachial-crural hemiparesis. A CT scan showed a right fronto-rolandic lesion. A MRI, including DWI, confirmed the presence of the "neoplastic" lesion with slight hemorrhagic component and leptomeningeal contrast enhancement. Molecular TCR rearrangement test by PCR analysis was performed on skin biopsy, showed the presence of a single peak which fits with a monoclonal TCRG gene rearrangement (size 67). Molecular TCR test was also performed on the cerebrospinal fluid (CSF), which confirmed the presence of lymphocyte clone T g/ more expressed with the same size of that observed in the skin biopsy A total body CT scan did not show any lymphnodal or extranodal disease. The patient died after ten days.
Conclusion:
MF usually occurs in the context of advanced and often histologically transformed cutaneous disease. Isolated CNS involvement is remarkably rare. This case highlights the need for regular neurologic follow-up after the diagnosis of MF, in particular when features that suggest risk of disease progression are present. Furthermore, the analysis of the skin biopsy and above all of CSF by PCR technique, based on our experience, should always be executed in MF patients with signs or symptoms suggesting CNS involvement.