Caf é au Lait Macules and Associated Genetic Syndromes

This article provides an overview of CALMs, followed by a summary of several conditions associated with CALMs ranging from the most common (neurofibromatosis type 1) to rare, ring chromosome syndromes.
Source: Journal of Pediatric Health Care - Category: Pediatrics Authors: Tags: Continuing Education Source Type: research

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PMID: 31930474 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
ConclusionsOverall, our study confirms thatNf1+/ − mice exhibit deficits in behavioral inhibition in multiple contexts, a key feature of ADHD, and can be used as a model system to identify alterations in neural circuitry associated with symptoms of ADHD in children with NF1.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
In conclusion, despite the contribution of new imaging techniques and despite relative advancement, the cognitive phenotype of NF1 patients is not totally understood.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Hai-En Wu, Tie-Nan Li, Chun-Lin Jin, Yong-Bin LiuIndian Journal of Dermatology 2020 65(1):81-83
Source: Indian Journal of Dermatology - Category: Dermatology Authors: Source Type: research
Publication date: March 2020Source: Human Pathology: Case Reports, Volume 19Author(s): Xiuyan Feng, Hongzhi Xu, Nestor Dela CruzAbstractMucosal Schwann Cell Hamartoma (MSCH) of the gastrointestinal (GI) tract is an incidental finding by screening colonoscopy, rarely reported in the English literature since first described in 2009. We diagnosed a case of sigmoid colon MSCH in a 60-year-old female without a family history or medical history of Neurofibromatosis Type 1 (NF1, von Recklinghausen’s disease), neuronal lesion, MEN2, or other syndromes. The endoscopic exam revealed a 4 mm sessile polyp with no erosion or...
Source: Human Pathology: Case Reports - Category: Pathology Source Type: research
Neurofibromatosis type 2 (NF2), an inherited disorder associated with multiple inherited schwannomas, meningiomas and ependymomas is caused by an autosomal dominant, likely loss of function germline mutation of the NF2 gene. Interestingly, biallelic NF2 gene inactivation is one of the most common mutations associated with the development of malignant mesothelioma (MM), a highly fatal malignancy that arises in the pleura and less frequently in the pericardium, peritoneum, and tunica vaginalis. It has been proposed that NF2 patients could potentially be at increased risk of developing MM. However, patients with inherited NF2...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Case Report Source Type: research
hnsen Tabatabai The use of radiation treatment has increased for both sporadic and neurofibromatosis type 2 (NF2)-associated vestibular schwannoma (VS). However, there are a subset of radioresistant tumors and systemic treatments that are seldom used in these patients. We investigated molecular alterations after radiation in three NF2-associated and five sporadically operated recurrent VS after primary irradiation. We compared these findings with 49 non-irradiated (36 sporadic and 13 NF2-associated) VS through gene-expression profiling and pathway analysis. Furthermore, we stained the key molecules of the distinct p...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
This study investigated the therapeutic effects of bevacizumab on NF2-associated vestibular schwannomas in Japanese patients. Bevacizumab appears to be a useful therapeutic choice in NF2 cases to control the growth of VS. Therefore, a randomised control trial to prove this assumption is necessary. PMID: 31902875 [PubMed - as supplied by publisher]
Source: Neurologia Medico-Chirurgica - Category: Neurosurgery Tags: Neurol Med Chir (Tokyo) Source Type: research
Authors: Botero-Meneses JS Abstract Both as a physician and as a patient, having neurofibromatosis type 1 has been an important part of my life. In my practice as a physician and as a professor, I have tried to reflect on the reality of living with a genetic condition and how it affects the way I live and practice medicine. PMID: 31905340 [PubMed - in process]
Source: The Permanente journal - Category: General Medicine Tags: Perm J Source Type: research
Diwakar Bisoye, 65, from Odisha State, is covered in benign tumours of varying sizes. He suffers with suspected neurofibromatosis, a genetic and incurable illness.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
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