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Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure. Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss. Cultured CS cells are hypersensitive to UV radiation, because of im

Психиатрические результаты первого two спустя годы после октября 7 - нападения: систематический обзор последствий посттравматического стресса, беспокойства, депрессии и наркомании.

ЦЕЛИ: октябрь 7 :: нападения и последовавшая за ними война создали условия для устойчивой, многоплановой травмы. В настоящем систематическом обзоре обобщаются результаты исследований, проведенных в ходе первого обзора. two годы войны, чтобы прояснить раннее распространение симптомов посттравматического стресса (ПТСС), тревоги, депрессии и связанных с наркоманией последствий среди израильского населения. МЕТОДЫ: ПОСЛЕ ПРИСМА 2020 :: были проведены обыски по ПубМеду, Психиндо, Скопусу и веб-сайту науки с целью выявления исследований, опубликованных в период с октября 7, 2023 и октябрь 7, 2025 (з

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… The mental health impact of the October 7th terror attack on Jews and Arabs in Israel: A nationwide prospective study. Psychiatry Res. (2024) 337:115973. doi: 10.1016/j.psychres.2024.115973 3. Levi-Belz Y, Blank C, Groweiss Y, Neria Y. … Ethnic origin of Israeli Jews and psychological responses to the extreme stress of the ongoing war with Hamas in Gaza. Front Psychol. (2024) 15:1403132. doi: 10.3389/fpsyg.2024.1403132 35. Feingold D, Neria Y, Tzur Bitan D. …

Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.

BACKGROUND: Large rearrangements in BRCA1 and BRCA2 occur in a small percentage (< 1%) of patients tested for hereditary breast (BC) and ovarian cancer. It is unclear what factors predict BRACAnalysis Large Rearrangement Test (BART) positivity. METHODS: Data from 6 centers were included in this analysis. Individuals with negative Comprehensive BRACAnalysis tested for BART were included. RESULTS: From 1300 individuals, 42 (3.2%) were BART positivity. Factors positively associated with BART positivity were Myriad score, first-degree relatives with BC, infiltrating BC with ductal carcinoma in s

New spatial records of vascular plants in the Azores Archipelago: the PRIBES project and the Azorean Biodiversity Portal (ABP) initiatives - I. São Jorge Island (Azores).

BACKGROUND: The Azores Archipelago is known for its important natural heritage, yet its ecosystems face a "green tsunami" in the form of numerous exotic and invasive species. This influx has wrought serious biodiversity loss and degradation of ecosystem services, representing one of the greatest threats to conservation across the islands. Originating from accelerated global trade and travel, these invasions impact human activities, public health and economic sectors alike. The PRIBES project intends to contribute to "The Regional Strategy for the Management of Terrestrial and Freshwater Exotic

Anti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1.

Levin discusses a new study, by Meager and colleagues, which identified a novel target of the disordered immune response in patients with APS-1.

Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations.

Susceptibility to pancreatic adenocarcinoma appears to be linked to germ-line mutations in genes causing various familial cancer syndromes. The objectives of this study were to estimate the proportion of unselected pancreatic cancer patients belonging to hereditary cancer syndrome families and to determine the frequency ofp16, BRCA1, BRCA2, hMSH2, and hMLH1 germ-line mutations in patients with a personal or family history of cancer. The study population consisted of 102 patients with histologically verified pancreatic adenocarcinoma, unselected for age, sex, family history, or ethnic origin. P

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, terme

Lysosomal storage diseases.

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage ca

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… Four mutations, N370S, 84GG, IVS2+1G>A, and L444P, are responsible for 90% of the mutant alleles in type 1 Gaucher disease in Ashkenazi Jews and over 50% in non-Jewish patients with type 1 Gaucher disease [ 67 ]. … More than 90% of mutations in Ashkenazi Jews can be detected by screening for the most common mutations, and approximately 50% of the mutations in non-Jewish populations can be detected in this manner. …

Targeting B-cell maturation antigen for treatment and monitoring of relapsed/refractory multiple myeloma patients: a comprehensive review.

Despite major therapeutic advancements in recent years, multiple myeloma (MM) remains an incurable disease with nearly all patients experiencing relapsed and refractory disease over the course of treatment. Extending the duration and durability of clinical responses will necessitate the development of therapeutics with novel targets that are capable of robustly and specifically eliminating myeloma cells. B-cell maturation antigen (BCMA) is a membrane-bound protein expressed predominantly on malignant plasma cells and has recently been the target of several novel therapeutics to treat MM patien

A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.

Gaucher disease (GD), a rare hereditary lysosomal storage disorder, occurs due to a deficiency in the enzyme β-glucocerebrosidase (GCase). This deficiency leads to the buildup of substrate glucosylceramide (GlcCer) in macrophages, eventually resulting in various complications. Among its three types, GD2 is particularly severe with neurological involvements. Current treatments, such as enzyme replacement therapy (ERT), are not effective for GD2 and GD3 due to their inability to cross the blood-brain barrier (BBB). Other treatment approaches, such as gene or chaperone therapies are still in expe

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… The mutation in N370S of GBA1 is responsible for approximately 70% of GD1 cases in Ashkenazi Jews 70 . GD2 and GD3, especially GD2, are less prevalent as they are characterized by higher rates of mortality at an early age 68 . … Even though there is a higher occurrence of GD1 among Ashkenazi Jews, the majority of patients with this type of disease are non-Jewish individuals, considering the relatively small size of the Ashkenazi Jewish population on a global scale 65 . …

Cancer genetics and reproduction.

Cancers of the reproductive organs (i.e., ovaries, uterus and testes), like other cancers, occur as a result of a multi-stage interaction of genetic and environmental factors. A small proportion of cancers of the reproductive organs occur as part of a recognised cancer syndrome, as a result of inheritance of mutations in highly penetrant cancer susceptibility genes (e.g., BRCA1, BRCA2, MLH1 or MSH2). Recognition of individuals and families with inherited cancer predisposition syndromes and individuals at high risk due to familial cancer clustering is fundamentally important for the management

Families at risk for colorectal cancer: risk assessment and genetic testing.

As befits a common cancer, a family history of colorectal cancer (CRC) is reported by about 10% of individuals. The discovery of the genetic basis of hereditary nonpolyposis CRC and familial adenomatous polyposis has opened up the possibility for determining genetic predisposition to CRC in asymptomatic family members of affected cases. This article reviews the information needed for accurate risk assessment for those with a family history of CRC. Screening recommendations and the current status of genetic testing, including review of available tests such as microsatellite instability, immunoh

Результаты для неизбранных, недавно диагностированных пациентов с миеломой.

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Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.

Natural-history datasets have become pivotal for drug development and for shaping clinical-practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment-outcome, and regulatory advances into a practical framework for capturing and interpreting natural-history data, using Gaucher disease (GD) as a paradigm. We reviewed more than 300 peer-reviewed articles (2005-2025), FDA guidance documents, and output from large real-world registries. Part

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… In communities where consanguinity is customary or where genetic diagnoses carry social stigma—among Orthodox Ashkenazi Jews, for example, or in parts of the Middle East and North Africa—families may worry about diminished marriage prospects, community standing, or anxiety spreading through extended … Harney , et al., “ Genome‐Wide Data From Medieval German Jews Show That the Ashkenazi Founder Event Pre‐Dated the 14(Th) Century ,” Cell 185 , no. 25 ( 2022 ): 4703 – 4716.e16 . 36455558 10.1016/j.cell.2022.11.002 PMC9793425 10 D. Elstein , N. Belmatoug , B. …

Identification of germline genetic mutations in patients with pancreatic cancer.

BACKGROUND: Pancreatic adenocarcinoma (PAC) is part of several cancer predisposition syndromes; however, indications for genetic counseling/testing are not well-defined. In the current study, the authors sought to determine mutation prevalence and characteristics that are predictive of an inherited predisposition for PAC. METHODS: A total of 175 consecutive patients with PAC who underwent clinical genetics assessment at Memorial Sloan Kettering Cancer Center between 2011 and 2014 were identified. Clinical data, family history, and germline results were evaluated. RESULTS: Among 159 patients

Клинические и эпидемиологические характеристики множественных склерозов в южной части Азербайджанской Республики.

ЦЕЛИ: Изучение клинических и эпидемиологических характеристик множественных склерозов (МС) в южной части Азербайджанской Республики, население которой составляет 930,601. МЕТОДЫ: Это перспективное, одноцентральное, продольное исследование было проведено с января 1, 2013, по декабрь 31, 2022. В этом регионе пациенты из числа РС прошли обследование и лечение в рамках государственной программы. В течение этого периода 123 - отдельные лица посетили Неврологический центр; и 104 Подтвержденные случаи НР были включены в цифровую базу данных. Коэффициенты заболеваемости и распространенности в разбивке

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… Specifically, in northern Japan, the prevalence was 18.6 cases per 100,000 people. 24 In Irbid and Amman (Jordan), the prevalence of MS reached 38 and 39 cases per 100,000, respectively. 27 In Israel, the age-standardized prevalence was 61.6 cases per 100,000 among Jews and 35.3 cases per 100,000 among …

Precision genomic profiling in Gaucher disease: insights from atypical presentations.

BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, providing ample opportunities for interaction with other biological pathways to influence disease expression. Herein, we developed a model of precision medicine in this prototype single-gene disorder.MethodsThis study leveraged a well-characterized, longitudinally followed cohort

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… Familial mediterranean fever in Ashkenazi jews: the mild end of the clinical spectrum . J. Rheumatol. 37 ( 2 ), 422 – 425 . 10.3899/jrheum.090401 20008924 Lo S. M. Liu J. Chen F. Pastores G. M. Knowles J. Boxer M. ( 2011 ). … Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century . Cell 185 ( 25 ), 4703 – 4716.e16 . 10.1016/j.cell.2022.11.002 36455558 PMC9793425 Wang J. S. Koch R. L. Kenney‐Jung D. Huggins E. Sodhi S. S. Landstrom A. P. ( 2024 ). …

Gaucher Disease Types I and III Responded Well to Substrate Reduction Therapy Using Eliglustat.

Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can be classified into types I (without CNS disorders), II, and III. Substrate reduction therapy (SRT) is an oral therapy that improves patients' quality of life; however, its effect on type III GD is unknown. We administered SRT to GD types I and III patients and found it effective. Malignancy is a late complication of GD, bu

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… The N370S mutation accounts for approximately 70% of all genetic mutations in Jews and is associated with the development of GD type I ( 7 ). In Japan, the N370S mutation has not been identified, but the L444P and F213I mutations are common ( 7 , 8 ). …