Cant ú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. Eur J Med Genet. 2020 Jul 02;:103996 Authors: Kortüm F, Niceta M, Magliozzi M, Kubat KD, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K Abstract Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding heterooctameric ATP-sensitive potassium (KATP) channels. CS shows considerable clinical overlap with Zimmermann-Laband syndrome (ZLS), a rare condition with coarse facial features, hypertrichosis, gingival overgrowth, intellectual disability of variable degree, and hypoplasia or aplasia of terminal phalanges and/or nails. ZLS is caused by heterozygous gain-of-function variants in KCNH1 or KCNN3, and gain-of-function KCNK4 variants underlie the clinically similar FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) syndrome; KCNH1, KCNN3 and KCNK4 encode potassium channels. Within our research project on ZLS, we performed targeted Sanger sequencing of ABCC9 in 15 individuals tested negative for a mutation in the ZLS-associated genes and found two individuals harboring a heterozygous pathogenic ABCC9 ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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Publication date: Available online 28 September 2020Source: The Arts in PsychotherapyAuthor(s): Angelle Cook
Source: Arts in Psychotherapy - Category: Psychiatry & Psychology Source Type: research
CONCLUSION: The compliance was relatively low due to several challenges, which could serve as a tobacco control policy lesson in a lower-middle-income country. PMID: 32986364 [PubMed - as supplied by publisher]
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Asian Pac J Cancer Prev Source Type: research
Peripheral blood stem cell apheresis has become a routine procedure for the collection of peripheral blood stem cells to enable high-dose chemotherapy followed by autologous stem cell transplantation in high-risk pediatric malignancies. However, the procedure remains challenging in very low-weight infants due to high extracorporeal blood volume and citrate toxicity. Our case report demonstrates in detail a successful and complication-free large-volume leukapheresis in a very small infant weighing 6 kg using a Spectra Optia apheresis system after placing a femoral double-lumen Shaldon catheter. Anticoagulation was ac...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
Authors: Gupta R, Panwar RB, Sharma A, Panwar SR, Rao RS, Gupta BK Abstract Rheumatic heart disease (RHD) disables millions in Asia and Africa. Epidemiological data and clinical studies in India have reported a significant decline in its prevalence in last century. Global Burden of Disease (GBD) study estimated that RHD in India led to 395/100000 disability adjusted life years (DALYs) and 9.2/100000 deaths in 1990. This declined to 270/100000 and 7.9/100000, respectively, in 2017. School-based epidemiological studies in India have reported decline in clinically diagnosed RHD. On the other hand, GBD study has report...
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
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Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
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Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
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Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
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Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research
Wiedemann–Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co‐workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co‐workers, who also identified heterozygous KMT2A mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding dif...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research
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