Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1887
Abstract: BACKGROUND Many hearing-impaired patients carry mutations in rare or novel genes undetected in regular genetic hot regions/genes screening. METHODS We collected clinical and genetic data from subjects with hearing loss who visited our department for… read more here.
Keywords: novel mutations; impaired patients; hearing impaired; rare novel ... See more keywords
Salivary Duct Carcinoma of the Parotid Gland Originating from an Epithelial-Myoepithelial Carcinoma: Report of a Rare Case
Sign Up to like & getrecommendations! Published in 2019 at "Head and Neck Pathology"
DOI: 10.1007/s12105-019-01034-0
Abstract: Salivary duct carcinoma (SDC) is a high-grade carcinoma with poor prognosis, especially among various salivary carcinomas. In this study, we report a rare case of SDC of the parotid gland originating from an epithelial-myoepithelial carcinoma… read more here.
Keywords: duct carcinoma; carcinoma; sdc; case ... See more keywords
Pancreas angiosarcoma—Case report of a rare cause of abdominal pain
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.09.131
Abstract: Highlights • Pancreatic angiosarcoma is a rare entity, with 7 cases reported in literature so far.• Diagnosis is often difficult, since histology and immunohistochemistry is mandatory.• Surgery is the only curative option, though metastatic disease… read more here.
Keywords: case; angiosarcoma case; report rare; rare cause ... See more keywords
Microcystic adnexal carcinoma: report of rare cases
Sign Up to like & getrecommendations! Published in 2020 at "Bioscience Reports"
DOI: 10.1042/bsr20191557
Abstract: Abstract Microcystic adnexal carcinoma (MAC) is a rare, locally aggressive malignant neoplasm that derives from cutaneous eccrine/apocrine glands. MAC is classified as an eccrine/apocrine gland tumor and usually occurs in the skin. Here, we characterized… read more here.
Keywords: carcinoma report; rare cases; report rare; adnexal carcinoma ... See more keywords
Shiitake dermatitis: a case report of a rare mushroom‐induced dermatitis in the United States
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Dermatology"
DOI: 10.1111/ijd.16445
Abstract: Shiitake dermatitis: a case report of a rare mushroominduced dermatitis in the United States Dear Editor, A 42-year-old previously healthy male presented to the clinic with a pruritic and erythematous linear rash located on the… read more here.
Keywords: dermatitis case; shiitake dermatitis; case report; report rare ... See more keywords
Acute haemorrhagic oedema of infancy: first report of a rare small vessel vasculitis in the neonatal period
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2020-319739
Abstract: A 23-day-old male infant presented with fever (38°C), associated with rhinorrhoea, conjunctivitis and cough. An exuberant eruption was noted on the face, trunk and limbs in the preceding 24 hours. His mother was Irish and his… read more here.
Keywords: infancy first; acute haemorrhagic; haemorrhagic oedema; report rare ... See more keywords
Intradiaphragmatic bronchogenic cyst: report of a rare new case
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-248136
Abstract: Bronchogenic cysts (BCs) are congenital abnormalities commonly found within the mediastinum. Diaphragmatic location is extremely rare. We present a woman in her 60s with an asymptomatic intradiaphragmatic BC. The patient underwent complete surgical resection with… read more here.
Keywords: intradiaphragmatic bronchogenic; report rare; case; rare new ... See more keywords
Crouzon’s Syndrome with a Dominant Sinus Pericranii Draining Transverse Sinus: Report of a Rare Association and Review of Literature
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Neurosurgery"
DOI: 10.1159/000524134
Abstract: Introduction: Crouzon’s syndrome and sinus pericranii (SP) are rare entities. Only few cases having both the features are reported. SP most commonly drains in relation to superior sagittal sinus and their communication to major posterior… read more here.
Keywords: sinus; sinus pericranii; crouzon syndrome; transverse sinus ... See more keywords
Case Report: A rare case of a vanishing unilateral effusion
Sign Up to like & getrecommendations! Published in 2020 at "F1000Research"
DOI: 10.12688/f1000research.24711.1
Abstract: Pleural effusions rarely spontaneously resolve, and we document an instance where this phenomenon occurred. Here, we report a case of a 95-year old female who presented with a unilateral pleural effusion, diagnosed as secondary to… read more here.
Keywords: rare case; case; report rare; effusion ... See more keywords
Cardiac tumors in both twins – A case report of a rare occurrence
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Pediatric Cardiology"
DOI: 10.4103/apc.apc_98_19
Abstract: Cardiac tumors in neonates and infancy are one among the many known congenital cardiac diseases. Although fetal cardiac tumors are rare, there is increased detection because of expertise in echocadiographic examination. Rhabdomyomas are the most… read more here.
Keywords: tumors twins; rare occurrence; report rare; twins case ... See more keywords