OpenMed/multicare-articles huggingface dataset:
Chemical tuning of photoswitchable azobenzenes: a photopharmacological case study using nicotinic transmission
Authors: Lorenzo Sansalone, Jun Zhao, Matthew T Richers, Graham C R Ellis-Davies
Journal: Beilstein J Org Chem (2019)
Keywords: acetylcholine receptors, bidirectional, photoswitchable drug, tetrafluoroazobenzene, visible light

We have developed photochromic probes for the nicotinic acetylcholine receptor that exploit the unique chemical properties of the tetrafluoroazobenzene (4FAB) scaffold. Ultraviolet light switching and rapid thermal relaxation of the metastable cis configuration are the main drawbacks associated with standard AB-based switches. We designed our photoprobes to take advantage of the excellent thermodynamic stability of the cis-4FAB configuration (thermal half-life > 12 days at 37 °C in physiological buffer) and cis-trans photostationary states above 84%. Furthermore, the well-separated n-π* absorption bands of trans- and cis-4FAB allow facile photoswitching with visible light in two optical channels. A convergent 11-step synthetic approach allowed the installation of a trimethylammonium (TA) head onto the 4FAB scaffold, by means of an alkyl spacer, to afford a free diffusible 4FABTA probe. TAs are known to agonize nicotinic receptors, so 4FABTA was tested on mouse brain slices and enabled reversible receptor activation with cycles of violet and green light. Due to the very long-lived metastable cis configuration, 4FAB in vivo use could be of great promise for long term biological studies. Further chemical functionalization of this 4FAB probe with a maleimide functionality allowed clean cross-linking with glutathione. However, attempts to conjugate with a cysteine on a genetically modified nicotinic acetylcholine receptor did not afford the expected light-responsive channel. Our data indicate that the 4FAB photoswitch can be derivatized bifunctionally for genetically-targeted photopharmacology whilst preserving all the favorable photophysical properties of the parent 4FAB scaffold, however, the tetrafluoro motif can significantly perturb pharmacophore-protein interactions. In contrast, we found that the freely diffusible 4FABTA probe could be pre-set with green light into an OFF state that was biologically inert, irradiation with violet light effectively "uncaged" agonist activity, but in a photoreversible manner. Since the neurotransmitter acetylcholine has fully saturated heteroatom valences, our photoswitchable 4FABTA probe could be useful for physiological studies of this neurotransmitter.
Dysphagia due to anterior cervical osteophytosis: case report
Authors: Mateus Morais Aires, Gabriela Marie Fukumoto, Sarah Lima Ribeiro, Leonardo Haddad, Eliézia Helena de Lima Alvarenga
Journal: Codas (2021)
MeSH terms: Deglutition Disorders / diagnostic imaging, Deglutition Disorders / etiology, Spinal Osteophytosis, Case Reports, Aged, Cervical Vertebrae / diagnostic imaging, Deglutition, Humans, Male, Neck

Anterior cervical osteophytosis is a noninflammatory condition characterized by calcification or ossification of the anterolateral paravertebral ligaments of the cervical spine. It affects 20 to 30% of the elderly, being responsible for 1.6% of the identifiable etiologies of dysphagia in the senile population. In advanced states, dysphagia due to cervical osteophytosis can lead to complications such as malnutrition, weight loss and aspiration pneumonia. This study aims to alert to this diagnosis, enabling early treatment of the condition. The case of a 66-year-old male patient with choking dysphagia for solids and nasal food reflux for 1 year is reported. Fiberoptic Endoscopic Evaluation of Swallowing showed bulging of the posterior pharyngeal wall and, with solid food supply, restriction to the retroflexion of the epiglottis, nasal reflux of the food and a large amount of food residue on the lesion. Cervical spine Computed Tomography identified the presence of anterior cervical osteophytes between the C3 and C6 vertebrae, the largest with anteroposterior length of 12 millimeters, narrowing the air column at the level of the oro- and hypopharynx. The patient was adequately treated with swallowing therapy by speech-language pathologist. The initial treatment strategy for symptomatic osteophytosis should be conservative, usually with a good response to swallowing therapy. Although they are rarely implicated in the etiology of dysphagia, considering its high prevalence, it is important that otolaryngologists and speech-language pathologists are attentive to this diagnosis, allowing early and effective treatment for the assisted patient, better prognosis and fewer complications of oropharyngeal dysphagia in the elderly.
Evaluation of Sentinel Lymph Node Dose Distribution in 3D Conformal Radiotherapy Techniques in 67 pN0 Breast Cancer Patients
Authors: Gerlo Witucki, Nikolaus Degregorio, Andreas Rempen, Lukas Schwentner, Dirk Bottke, Wolfgang Janni, Florian Ebner
Journal: Int J Breast Cancer (2015)

Introduction. The anatomic position of the sentinel lymph node is variable. The purpose of the following study was to assess the dose distribution delivered to the surgically marked sentinel lymph node site by 3D conformal radio therapy technique. Material and Method. We retrospectively analysed 70 radiotherapy (RT) treatment plans of consecutive primary breast cancer patients with a successful, disease-free, sentinel lymph node resection. Results. In our case series the SN clip volume received a mean dose of 40.7 Gy (min 28.8 Gy/max 47.6 Gy). Conclusion. By using surgical clip markers in combination with 3D CT images our data supports the pathway of tumouricidal doses in the SN bed. The target volume should be defined by surgical clip markers and 3D CT images to give accurate dose estimations.
Colonic Metastasis of Adenoid Cystic Carcinoma 19 Years after the Primary Tumor Resection
Authors: Subramanya Sakaleshpura Mallikarjunappa, Shriram Jakate, Lin Cheng
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Adenoid cystic carcinoma (ACC) is a tumor characterized by slow growth and late distant metastasis. The lung and breast are the most common sites for metastasis. Colonic metastasis of such a tumor is rare, with few case reports available. Here, we report a case of ACC arising from minor salivary gland that metastasized to the colon 19 years after the primary tumor resection, with literature review of the clinical, histological, and molecular features of ACC. This case raises our awareness of such tumors as a differential diagnosis of colorectal cancer.
Renal Angiomylipoma with Epithelial Cyst (AMLEC): A Rare Cystic Variant of Angiomyolipoma
Authors: Felix Delbare, Benjamin Leenknegt, Marc Lemmerling
Journal: J Belg Soc Radiol (2023)
Keywords: mri, angiomyolipoma, angiomyolipoma with epithelial cyst, kidney, ultrasound
MeSH terms: Case Reports

Teaching Point: AMLEC is a rare subtype of an angiomyolipoma (AML) and not a primary cystic lesion.
Ultrasound-Guided Interscalene Brachial Plexus Block for Pathological Humerus Fracture due to Multiple Myeloma with Systemic Manifestation: Useful Option for Management in Low-Income Countries
Authors: Pawan Kumar Hamal, Bibena Lamichhane, Nabin Pokhrel, Janith Singh, Rupesh Kumar Yadav
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Anesthetic management of pathological fracture due to multiple myeloma with systemic manifestation poses a perioperative challenge especially in low-resource setups like Nepal. Regional anesthesia using ultrasound-guided block can improve the accuracy, reduce complications, and improve overall perioperative management of pathological fractures due to malignancy with systemic spread in resource-deprived setups. We present a case of a 53-year-old lady with pathological fracture of left humerus shaft, a diagnosed case of multiple myeloma with compression fracture of multiple lumbar spine with chest wall metastasis with resolving acute kidney injury with chest infections. Ultrasound-guided interscalene brachial plexus block with sedation was done for open reduction internal fixation of humerus shaft fracture taking in consideration the overall high perioperative risk of patient. Intraoperative hemodynamic was uneventful, with no neurological sequelae and good recovery status perioperatively. Ultrasound-guided interscalene brachial plexus block if done cautiously can be a very useful alternative technique for better perioperative outcome in patients with malignancy with systemic spread in areas where expertise is scarce and resource is limited.
Neonatal Sleeve Gastrectomy for Multiple Gastric Perforations: A Case Report
Authors: Francisco Reyna-Sepulveda
Journal: J Neonatal Surg (2017)
Keywords: gastric, gastric sleeve, neonate, perforation
MeSH terms: Case Reports

Neonatal gastric perforation (NGP) may be spontaneous, secondary to necrotizing enterocolitis (NEC), or due to distal obstruction. A 27-week old premature male newborn presented with pneumoperitoneum. A single perforation of stomach was found at surgery. Primary repair and gastrostomy were performed. On fifth postoperative day, pneumoperitoneum was again detected. At reoperation, multiple gastric perforations of the greater curvature were found. Sleeve gastrectomy was performed. The patient responded well to the treatment.
Intracystic papillary carcinoma of the breast in a male patient: a case report
Authors: Sadık Muallaoglu, Ersin Ozdemir, Lale Kutluay
Journal: Case Rep Med (2012)

Breast carcinoma is an uncommon neoplastic condition among man, accounting for not more than 1% of all breast cancers. Intracystic papillary carcinoma in man is an extremely rare condition and represents only 5-7,5% of all male breast carcinomas. Clinical and radiological manifestations of intracystic papillary carcinomas are not specific. Pathologic diagnosis can be difficult at classical histological examination and identification of myoepithelial cells layer by immunohistochemical study can be useful. Adjuvant therapy is still controversial and prognosis is excellent. We report a case of this rare histological type of breast cancer in 48-year-old male patient and review the literature.
Metachronous or synchronous male breast and prostate cancers a duality to lookout for
Authors: Alain Mwamba Mukendi, Eunice Van Den Berg, Sugeshnee Pather, Rushen Siva Padayachee
Journal: F1000Res (2018)
Keywords: male breast cancer, prostate cancer, duality, metachronous, synchronous, men of african descent
MeSH terms: Breast Neoplasms, Prostatic Neoplasms, Case Reports, Aged, Androgen Antagonists, Digital Rectal Examination, Humans, Male, Mastectomy, Middle Aged, Neoplasms, Multiple Primary, Prostate-Specific Antigen, Androgen Antagonists, Prostate-Specific Antigen

Introduction: Breast cancer is well known as the stereotypical women's cancer, and prostate cancer represents the well-known stereotypical male counterpart. While prostate cancer carries the potential to metastasize to the breast, the synchronous or metachronous co-occurrence of primary breast and primary prostate cancers is quite unusual. Prostate cancer in men of African descent may have its own behaviour with regards to its relationship with male breast cancer. Case presentation: Case 1: A 64 year old male presented to Chris Hani Baragwanath Hospital (CHBAH) with a 2 years history of a painless left breast lump. A core biopsy was done and confirmed breast carcinoma. Tamoxifen was started but, due to disease progression, he underwent left modified radical mastectomy followed by chemotherapy. Prostate biopsy was done for raised Prostate Specific Antigen (PSA) and suspicious prostate on digital rectal examination. A prostatic adenocarcinoma was subsequently diagnosed with bone metastases on bone scan. He was started on Androgen deprivation therapy and followed up every 3 months. Case 2: A 68 year old male presented to CHBAH with a 1 year history of a painless right breast lump. A core biopsy confirmed breast cancer. Tamoxifen was started, followed by right modified radical mastectomy and chemotherapy for disease progression. A raised PSA and suspicious prostate on digital rectal examination prompted a prostate biopsy revealing a prostatic adenocarcinoma. Bone scan was negative for metastasis. He is currently on 3 monthly Androgen deprivation therapy and awaiting radiation. Conclusion: This clinical practice article not only presents this exceptionally rare duality but highlights that both cancers can coexist either as sporadic conditions, or as a result of genetic mutations. Thus, we suggest that men with prostate cancer be screened clinically, biochemically and genetically for breast cancer and vice versa.
Case report: Transected Hickman catheter and its thrombotic occlusion in a patient with idiopathic pulmonary arterial hypertension-can a catheter replacement be avoided?
Authors: Grzegorz Sławiński, Piotr Zieleniewicz, Anna Faran, Alicja Dąbrowska-Kugacka, Marcin Kurzyna, Maciej Kempa, Ludmiła Daniłowicz-Szymanowicz, Ewa Lewicka
Journal: Front Cardiovasc Med (2023)
Keywords: epoprostenol, hickman and broviac catheters, pulmonary hypertension, repair kit, thrombosis
MeSH terms: Case Reports

A 25-year-old female with idiopathic pulmonary arterial hypertension (PAH), who had a Hickman catheter implanted for continuous intravenous epoprostenol infusion, was admitted to the clinic after inadvertently cutting the catheter with nail scissors during a routine dressing change. Approximately 7 cm of the external segment of the Hickman catheter remained intact, with the distal end knotted by paramedics. A decision was made to repair the damaged Hickman catheter. However, it was discovered that its lumen was completely occluded by thrombosis. Therefore, catheter patency was mechanically restored using a 0.035-inch stiff guidewire in a sterile operating theatre setting, under fluoroscopy guidance. Successful aspiration and catheter flushing were achieved. Continuity of the Hickman catheter was then restored using a repair kit (Bard Access Systems) as per the manufacturer's instructions, with no visible leakage thereafter. Epoprostenol infusion through the Hickman catheter was resumed 24 h later, and the patient was discharged in good general condition two days afterward.
Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) and Subsequent Central Diabetes Insipidus: A Rare Presentation of Pituitary Apoplexy
Authors: S B Smedegaard, J O Jørgensen, N Rittig
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Pituitary apoplexy (PA) is a rare endocrine emergency that occasionally presents with sodium disturbances. Here we present a rare case with a previously healthy 41-year-old female who presented with acute onset headache and nausea without visual impairment or overt pituitary dysfunction. Plasma sodium concentrations declined abruptly during the first two days of admission to a nadir of 111 mmol/l. Urine and blood chemistry were consistent with syndrome of inappropriate antidiuretic hormone secretion (SIADH). Magnetic resonance imaging revealed recent bleeding into a pituitary cystic process. Hyponatremia was successfully corrected with fluid restriction and both visual function and anterior pituitary function remained intact. Subsequently, the patient developed central diabetes insipidus (CDI), which responded well to desmopressin substitution. To our knowledge, this is the first case of PA presenting predominantly with posterior pituitary dysfunction that transitioned from SIADH to permanent CDI.
Gastric perforation and pancreatitis manifesting after an inadvertent nissen fundoplication in a patient with superior mesenteric artery syndrome
Authors: Mikael Petrosyan, Joaquin J Estrada, Stefano Giuliani, Monica Williams, Heather Rosen, Rodney J Mason
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Superior mesenteric artery (SMA) syndrome is an uncommon but well-recognized clinical entity. It can lead to proximal small bowel obstruction and severe morbidity and mortality in lieu of late diagnosis and concomitant existing comorbidities. We report a 54-year-old female, with SMA syndrome which manifested itself after Nissen fundoplication along with two major complications. The diagnosis of SMA was established by clinical symptoms and radiological findings.
Concomitant Langerhans cell histiocytosis of cervical lymph nodes in adult patients with papillary thyroid carcinoma: A report of two cases and review of the literature
Authors: Bayan Maraqa, Maxim Al-Ashhab, Nazmi Kamal, Mousa El Khaldi, Maher Sughayer
Journal: Autops Case Rep (2021)
Keywords: braf, langerhans cell histiocytosis, adults, papillary thyroid carcinoma
MeSH terms: Case Reports

Objective:
: Langerhans cell histiocytosis (LCH) is an uncommon entity of unknown etiology. It contains a wide range of clinical presentations. The discovery of oncogenic BRAF V600E mutation in LCH has provided additional evidence that LCH is a neoplasm. Papillary thyroid carcinoma is the most common cancer of the thyroid characterized by a high incidence of BRAF V600E mutations. LCH with concomitant PTC is rare, with few cases reported in the literature.
Cases summary:
We identified two cases of LCH with concomitant papillary thyroid carcinoma in adult patients. The first was a 49-year-old female with a thyroid nodule diagnosed with papillary thyroid carcinoma. Later, the patient had a left neck mass; Ultrasound-guided lymph node FNA was diagnosed with Langerhans histiocytosis. Subsequently, a chest CT scan revealed signs of Langerhans cell histiocytosis in the lung. The second case refers to a 69-year-old male who presented with a left thyroid nodule diagnosed on FNA cytology as papillary thyroid carcinoma. The patient was found to have multiple bone lytic lesions. Biopsies revealed Langerhans cell histiocytosis. Later, the patient experienced LCH involvement of the bone marrow with associated secondary myelofibrosis.
Conclusions:
LCH is rare in adults; the association with papillary thyroid carcinoma is reported and should be considered in the presence of Langerhans cell groups along with PTC, whether in the thyroid gland or cervical lymph nodes. Once LCH has been diagnosed, pulmonary involvement should also be investigated. This will direct treatment plans for patients with pulmonary or systemic disease involvement.
Pelvic Organ Prolapse in Ehlers-Danlos Syndrome
Authors: Azadeh Nazemi, Katherine Shapiro, Shavy Nagpal, Nirit Rosenblum, Benjamin M Brucker
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Ehlers-Danlos syndrome (EDS) is a hereditary tissue and collagen synthesis disorder that can predispose patients to gynecologic and obstetric complications. Female patients often suffer from bothersome pelvic floor disorders, but due to the medical complexity of EDS, special considerations are needed for the treatment of pelvic organ prolapse and associated incontinence. In this paper, we present three unique cases of pelvic organ prolapse (POP) in EDS patients and delve deeper into the multidisciplinary approach involving urogynecology, rheumatology, physiatry, gastroenterology, and anesthesiology required to appropriately manage this condition.
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
Authors: Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park
Journal: Front Pediatr (2020)
Keywords: efnb1 mutation, craniofrontonasal dysplasia, global developmental delay, schizencephaly, trio exome sequencing
MeSH terms: Case Reports

Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation that was demonstrated in clinical diagnosis as global developmental delay (GDD) and brain anomaly without frontonasal dysplasia or other malformation. Case Presentation: This study reports the genetic analysis of a 4-month-old female infant presenting brain anomaly and GDD. She was the only child of unrelated parents. Early developmental was characterized by delays in fine motor, achieving gross motor, language, and social-cognitive milestones. She could not control her head or hold objects until 4 months of age. Brain magnetic resonance imaging revealed schizencephaly and dysgenesis of corpus callosum. Trio-based whole-exome sequencing revealed a heterozygous c.943C>T (p.Pro315Ser) in the EFNB1. Sanger sequencing confirmed this heterozygous alteration occurring in a dominant de novo manner, as a consequence of phenotypic and genotypic wild type in both parents. Conclusion: EFNB1 mutation is considered for a child with schizencephaly, and further study focusing on phenotyping is required to understand the possible contribution of environmental impact and genetic modifier in the expression of EFNB1.
Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report
Authors: Izabela Cendal, Agnieszka Szafrańska, Tomasz Fuchs, Dariusz Patkowski, Robert Smigiel, Barbara Królak-Olejnik
Journal: Front Pediatr (2021)
Keywords: slc26a3 gene, case report, chronic diarrhea, congenital chloride diarrhea (ccd), infant diarrhea
MeSH terms: Case Reports

Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing.
10-cm mature cystic teratoma of the bladder in 48-year-old female misdiagnosed as bladder calculus: Management with robotic partial cystectomy
Authors: Benjamin J Behers, Spencer B Kortum, Isabella G Bermingham, Karim Ghazli, Robert I Carey
Journal: Urol Case Rep (2023)
Keywords: mature cystic teratoma, robotic partial cystectomy
MeSH terms: Case Reports

Cystic teratomas are a common ovarian neoplasm that are rarely found in other locations of the body, namely the sacrococcygeal region and anterior mediastinum. Localization to the urinary bladder is exceedingly rare, with only a few cases documented in the literature. Cystic teratomas are usually asymptomatic and found incidentally, but localization to the bladder can present as irritative lower urinary tract symptoms and/or mimic urinary tract calculi. We report the rare case of a mature cystic teratoma of the urinary bladder, presenting as foul-smelling urine with recurrent urinary tract infections and microhematuria, that was originally misdiagnosed as a bladder calculus.