Jody Filippo Capitanio, Pietro Mortini
Several medical conditions that interest both the brain and the spinal cord have been described throughout the history of medicine. Formerly grouped under the term Phacomatosis because lesions of the eye were frequently encountered or genodermatosis when typical skin lesions were present, these terms have been progressively discarded. Although originally reported centuries ago, they still represent a challenge for their complexity of cure. Nowadays, with the introduction of advanced genetics and the consequent opportunity of whole-genome sequencing, new single cancer susceptibility genes have been identified or better characterized; although there is evidence that the predisposition to a few specific tumor syndromes should be accounted to a group of mutations in different genes while certain syndromes appeared to be manifestations of different mutations in the same gene adding supplementary problems in their characterization and establishing the diagnosis...
2023: Advances in Experimental Medicine and Biology
E O Mamedova, D V Lisina, Zh E Belaya
Functioning pituitary adenomas and pheochromocytomas/paragangliomas are rare in the general population. Pituitary adenomas occur in the familial setting in approximately 5% of cases, whereas pheochromocytomas/paragangliomas can be hereditary in 30-40% of cases. Hereditary syndromes associated with pituitary adenomas include multiple endocrine neoplasia types 1 and 4, familial isolated pituitary adenomas, and Carney complex. Hereditary syndromes associated with pheochromocytomas/paragangliomas and genes, mutations in which predispose to their development, are more numerous...
May 11, 2023: Problemy E̊ndokrinologii
Kenneth Blum, Thomas McLaughlin, Abdalla Bowirrat, Debasis Bagchi, Eric R Braverman, Ashim Gupta, David Baron, Panayotis K Thanos, Jag Khalsa, Nicole Jafari, Foojan Zeine, John Giordano, Catherine A Dennen, Margaret A Madigan, Paul Carney, Mark S Gold, Keerthy Sunder, Rajendra D Badgaiyan
It is with a saddened heart that we are dedicating this article to the loving memory of our dear departed friend and associate B. William Downs. Bill was well known in the nutritional space worldwide for his major contributions to the health and welfare of millions around the globe. The founder of Victory Nutrition International (VNI) in conjunction with Kim Downs, as well as so many contributions to scientific literature, to those that knew him personally will forever be touched. Bill was a highly spirited human with a never ending love for caring and helping so many individuals...
February 16, 2023: EC Psychology and Psychiatry
Bárbara Oliveira Reis, Christianne Toledo Sousa Leal, Danielle Guedes Andrade Ezequiel, Ana Carmen Dos Santos Ribeiro Simões Juliano, Flávia Lopes de Macedo Veloso, Leila Marcia da Silva, Lize Vargas Ferreira, Mariana Ferreira, Gabriel Zeferino De Oliveira Souza
BACKGROUND: The diagnosis of Cushing's syndrome is challenging; however, through the clinical picture and the search for secondary causes of osteoporosis, it was possible to reach the diagnosis of the case reported. There was an independent, symptomatic ACTH hypercortisolism manifested by typical phenotypic changes, severe secondary osteoporosis and arterial hypertension in a young patient. CASE PRESENTATION: A 20-year-old Brazilian man with low back pain for 8 months...
June 17, 2023: Journal of Medical Case Reports
Mandy Hsu, Nader El Seblani, Zahra Zhu, Bhuvaneswari Ramisetty, Christopher Day, Jikku Zachariah, Divpreet Kaur, Ashutosh Kumar, Sita Paudel, Dustin Paul, Puneet Singh Kochar, Paul R Carney, Sunil Naik
Elsberg syndrome is a typically infectious syndrome that may cause acute or subacute bilateral lumbosacral radiculitis and sometimes lower spinal cord myelitis. Patients often present with various neurological symptoms involving the lower extremities, including numbness, weakness, and urinary disturbances such as retention. A 9-year-old girl with no significant past medical history presented with altered mental status, fever, urinary retention, and anuria and was found to have encephalomyelitis. An extensive diagnostic workup led to ruling out possible etiologies until identifying Elsberg syndrome...
April 14, 2023: Children
Rodanthi Vamvoukaki, Maria Chrysoulaki, Grigoria Betsi, Paraskevi Xekouki
Pituitary neuroendocrine tumors (PitNETs), the third most common intracranial tumor, are mostly benign. However, some of them may display a more aggressive behavior, invading into the surrounding structures. While they may rarely metastasize, they may resist different treatment modalities. Several major advances in molecular biology in the past few years led to the discovery of the possible mechanisms involved in pituitary tumorigenesis with a possible therapeutic implication. The mutations in the different proteins involved in the Gsa/protein kinase A/c AMP signaling pathway are well-known and are responsible for many PitNETS, such as somatotropinomas and, in the context of syndromes, as the McCune-Albright syndrome, Carney complex, familiar isolated pituitary adenoma (FIPA), and X-linked acrogigantism (XLAG)...
April 21, 2023: Medicina
Martina Di Stasi, Kshitij Mankad, Olivia Carney, Ulrike Loebel, Asthik Biswas, Sniya Sudhakar, Veronica Kinsler, Felice D'Arco
Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy-Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision...
June 2023: Neuroradiology
Jillian M Cameron, John A Damiano, Bronwyn Grinton, Patrick W Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E Scheffer, Karen L Oliver, Michael S Hildebrand, Samuel F Berkovic
OBJECTIVE: To analyse phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder. METHODS: We analysed phenotypic data of ten patients from six families with protracted CLN3 disease. Haplotype analysis was performed in three reportedly unrelated families. RESULTS: Visual impairment was the initial symptom with onset at 5-9 years, similar to classic CLN3 disease. Mean time from onset of visual impairment to seizures was 12 years (range 6-41 years)...
April 11, 2023: Epilepsia
Anwar A Alhulaibi, Abdulrahman M Alruwaili, Zahra M Albahar, Wiam T Abdelsalam, Mohamed A Elasheri, Abdullah S Alotaibi
Carney complex is rare neoplastic disorder. Intracardiac myxoma presenting the most common non-cutaneous lesions in this complex. We are reporting a 31-year-old Saudi female known case of Carney complex presented with asymptomatic biatrial myxoma that was identified on routine transthoracic echocardiogram, and was successfully excised. However, these patients need a careful surveillance in order to detect any new masses and prevent their complications.
2023: Journal of the Saudi Heart Association
Ramiro A Vargas Aignasse, Diana A Pantoja Pachajoa, German R Viscido, Alejandro M Doniquian, Facundo I Mandojana
INTRODUCTION AND IMPORTANCE: Carney complex (CNC) is an extremely infrequent multiple endocrine neoplasia syndrome characterized by distinctive pigmented skin and mucosal lesions, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. We herein report a case of CNC and surgical and history of laparoscopic left adrenalectomy complicated with a primary pigmented nodular adrenocortical disease (PPNAD). PRESENTATION OF CASE: We present the case of a 38-year-old woman with a previous diagnosis of CNC and history of laparoscopic left adrenalectomy who consulted for severe depression refractory to medical treatment...
March 21, 2023: International Journal of Surgery Case Reports
Manasa Pagadala, Jeremy Marx, Hogan Brecount, John Carney, Erik Gerlach, Peter Swiatek, John Sarwark
AIMS AND OBJECTIVES: The prevalence and treatment of severe scoliosis and other spinal anomalies in patients with Turner's syndrome (TS) is not well reported. This is the largest case series to date regarding the treatment course and outcomes of severely scoliotic TS patients. METHODS: A retrospective chart review was performed to identify all patients with TS seen at a single center academic pediatric institution from 2007 to 2021. Of these, the presence of concomitant severe scoliosis or other spinal anomalies was determined, defined by a major coronal curve measuring 45° or greater...
March 2023: Journal of Orthopaedics
Sanhong Yu, Lynette M Sholl, Stephanie Siegmund, Thomas M Ulbright, Katrina Collins, Maurizio Colecchia, Maria Del Pilar Gonzalez-Peramato, Květoslava Michalová, Jennifer B Gordetsky, Kristine M Cornejo, Chia-Sui Kao, Sara E Wobker, Sara O Vargas, Fiona Maclean, Muhammad T Idrees, William J Anderson, Christopher D M Fletcher, Andres M Acosta
Large cell calcifying Sertoli cell tumour (LCCSCT) is a type of testicular sex cord-stromal tumour that may occur sporadically or in the context of Carney complex and other genetic syndromes. A subset is clinically malignant, and the molecular mechanisms that drive such aggressive behaviour remain unknown. METHODS AND RESULTS: We analysed 21 samples from 20 patients with LCCSCT (12 non-metastasising and eight metastasising) using PRKAR1A immunohistochemistry (IHC) and next-generation sequencing. All tumours except two (cases 17 and 20, both metastasising) demonstrated loss of PRKAR1A expression...
June 2023: Histopathology
Stephanie A Savage, Ben L Zarzaur, Erin E Fox, Charles E Wade, Patrick R Carney, Trieu V Do, John B Holcomb
BACKGROUND: Acute traumatic coagulopathy (ATC) has many phenotypes and varying morbidity and mortality. The MA-R ratio, calculated from the admission thromboelastogram, serves as a biomarker to identify 1 phenotype of ATC and has previously been associated with significant derangements in the inflammatory response. This study evaluates outcomes related to abnormal MA-R ratios, including inflammatory responses, in a heterogeneous patient population. STUDY DESIGN: Patients from the Pragmatic, Randomized Optimal Platelet and Plasma Ratios (PROPPR) dataset were included...
August 1, 2023: Journal of the American College of Surgeons
Ila Joshi, Walter P Carney, Edwin P Rock
Sepsis, a heterogeneous clinical syndrome, features a systemic inflammatory response to tissue injury or infection, followed by a state of reduced immune responsiveness. Measurable alterations occur in both the innate and adaptive immune systems. Immunoparalysis, an immunosuppressed state, associates with worsened outcomes, including multiple organ dysfunction syndrome, secondary infections, and increased mortality. Multiple immune markers to identify sepsis immunoparalysis have been proposed, and some might offer clinical utility...
2023: Frontiers in Immunology
Jeremy S Marx, Manasa Pagadala, John Carney, Erik Gerlach, Peter Swiatek, Jennifer A Zabinsky, John Sarwark, Wendy J Brickman, Reema L Habiby
BACKGROUND: The prevalence of major coronal and sagittal spinal curves (scoliosis and kyphosis) in Turner syndrome (TS) is not well established due to limited reporting. The relationship between growth hormone (GH) therapy and its effect on TS spinal curve incidence is also not well established. METHODS: A retrospective chart review of 306 TS patients from 2007 to 2021 evaluated major coronal and sagittal spinal curves, progression of the curve, and treatment with GH...
February 15, 2023: Journal of Pediatric Orthopedics
Cristhian E Scatularo, Leonardo Briceño, Miguel Sellanes, Hugo Grancelli
A 33-year-old woman with a history of high blood pressure since she was 8 years old, hypothyroidism, polycystic ovary syndrome, metabolic syndrome, multiple nevi, and a maternal family history of death at age 50 due to malignant high blood pressure and heart failure. Cushing's syndrome secondary to a secretory pituitary microadenoma was diagnosed, being the cause of secondary arterial hypertension, and ruling out other causes such as renal stenosis and coarctation of the aorta. A transthoracic and transesophageal echocardiogram was performed, which detected a left atrial myxoma...
2023: Medicina
Jing Xu, Meng Ye, Po Li, Shujing Xu, Miao Zhang, Lixin Shi, Juan He
BACKGROUND: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC. CASE PRESENTATION: A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation...
February 6, 2023: BMC Endocrine Disorders
Sophia Peng, Mandana Behbahani, Shelly Sharma, Nitin R Wadhwani, Jeff C Rastatter, Tord D Alden
PURPOSE: Osteochondromyxomas (OMX) are rare congenital bone tumors that have only been described in the context of Carney complex syndrome (CNC). Data on OMX as a separate entity and in association with other disorders remain limited, making both diagnosis and treatment difficult. METHODS: A case report of a 17-year-old female diagnosed with sellar OMX is presented in the setting of spondyloepiphyseal dysplasia (SED). We discuss the radiographic and histopathological interpretations in addition to reviewing the current literature on OMX...
February 1, 2023: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Sinéad M McGlacken-Byrne, Ashraf Abdelmaksoud, Mohammad Haini, Liina Palm, Michael Ashworth, Juan Li, Wei Wang, Xiumin Wang, Jian Wang, Bridget Callaghan, Veronica A Kinsler, Francesca Faravelli, Mehul T Dattani
We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing's syndrome, and distinct acral soft tissue overgrowth due to cutaneous mucinosis. This represents a novel manifestation of PRKACA disruption and broadens the extra-adrenal phenotype of PRKACA-associated Cushing's syndrome. Our data suggest that Cushing's syndrome phenotypes arising from somatic and germline PRKACA abnormalities can exist on a spectrum...
December 1, 2022: European Journal of Endocrinology
Tahrir Khalf Alruwaili, Khalid Ibrahim Alkanhal, Anas M AlShoomi, Deemah Ali Almanie, Moaad Hassan Alahmed
BACKGROUND Carney complex (CNC) is a rare multiple neoplasia syndrome with autosomal dominant inheritance. CNC is frequently misdiagnosed owing to its diverse clinical characteristics. We reported the case of a 14-year-old Saudi boy with a history of gynecomastia, Cushing syndrome, large-cell calcifying Sertoli cell tumor of the testis, and CNC. CASE REPORT The patient was referred to the pediatric endocrine clinic for evaluation of bilateral slow progressing gynecomastia for 1-year duration. His clinical examination revealed lentigenes, bilateral diffuse breast enlargement (consistent with Tanner stage III), and asymmetrical testicular enlargement, more on the left side...
December 27, 2022: American Journal of Case Reports
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