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Liver cirrhosis associated with double heterozygosity for genetic hemochromatosis (H63D) and alpha-1 antitrypsin deficiency (M-Malton) – A case report

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Liver cirrhosis associated with double heterozygosity for genetic hemochromatosis (H63D) and alpha-1 antitrypsin deficiency (M-Malton) – A case report

Gavino Faa et al · Hygeia Press di Corridori Marinella · 2026 · ISSN 2281-0692

Genetic hemochromatosis (GH) and alpha-1 antitrypsin (AAT) deficiency (AATD) are two autosomal recessive disorders associated with an increased risk for liver injury. Among different AATD and GH genotypes, the M-Malton...

LCC LCC:Medicine; TENDOlBlZGlhdHJpY3M~Idioma eng

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Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome

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Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome

Fanni Szumutku et al · SpringerOpen · 2026 · ISSN 2194-7791

Abstract Background Although 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, a substantial proportion of patients with clinically suspected 22q11.2DS (clin22q11.2) remain without ...

LCC TENDOlBlZGlhdHJpY3M~Idioma eng

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Phenome-wide study connects behavioral genetics of odor detection dogs with temperament traits

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Phenome-wide study connects behavioral genetics of odor detection dogs with temperament traits

Alexander W. Eyre et al · Nature Portfolio · 2026 · ISSN 2045-2322

Abstract We conducted a Phenome-Wide Association Study (PheWAS) to investigate whether alleles previously shown to be associated with problem behaviors in Labrador Retrievers from the U.S. Transportation Security Adminis...

LCC LCC:Medicine; TENDOlNjaWVuY2U~Idioma eng

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Progeny testing of tropical and sub-tropical maize lines for grain yield and Striga resistance

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Progeny testing of tropical and sub-tropical maize lines for grain yield and Striga resistance

Emeline N. Dossa et al · Nature Portfolio · 2026 · ISSN 2045-2322

Abstract Maize production (Zea mays L.) suffers severe losses due to infestations of Striga hermonthica (Sh) and S. asiatica (Sa). These challenges highlight the need for high-yielding Striga-resistant hybrids. Developin...

LCC LCC:Medicine; TENDOlNjaWVuY2U~Idioma eng

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Utilization of care and alignment of screening with NCCN guidelines for patients with Lynch syndrome: a retrospective cohort study

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Utilization of care and alignment of screening with NCCN guidelines for patients with Lynch syndrome: a retrospective cohort study

Christina Lowry et al · BMC · 2026 · ISSN 1897-4287

Abstract Objectives Determine the proportion of patients with Lynch syndrome who received guideline-concordant care according to NCCN guidelines during the study period (2015–2018). Methods A retrospective cohort study...

LCC TENDOk5lb3BsYXNtcy4gVHVtb3JzLiBPbmNvbG9neS4gSW5jbHVkaW5nIGNhbmNlciBhbmQgY2FyY2lub2dlbnM~; LCC:GeneticsIdioma eng

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COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts

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COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts

Antoine Favier et al · BMC · 2026 · ISSN 1756-994X

Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

LCC LCC:Medicine; LCC:GeneticsIdioma eng

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Case report: a case of CYBB gene variant in X-linked chronic granulomatous disease

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Case report: a case of CYBB gene variant in X-linked chronic granulomatous disease

Haiyan Lv et al · BMC · 2026 · ISSN 1471-2431

Abstract Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by impaired phagocytic function due to defects in the NADPH oxidase complex. This enzymatic deficiency compromises the productio...

LCC TENDOlBlZGlhdHJpY3M~Idioma eng

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Clinical, neuroimaging, and biomarker profiling of four Alzheimer’s disease pedigrees caused by pathogenic APP variants

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Clinical, neuroimaging, and biomarker profiling of four Alzheimer’s disease pedigrees caused by pathogenic APP variants

Jie-Wen Zhang et al · BMC · 2026 · ISSN 1758-9193

Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...

LCC LCC:Neurosciences. Biological psychiatry. Neuropsychiatry; LCC:Neurology. Diseases of the nervous systemIdioma eng

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Novel compound heterozygous mutations in KLHL24-induced recessive inherited hypertrophic cardiomyopathy: a case report

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Novel compound heterozygous mutations in KLHL24-induced recessive inherited hypertrophic cardiomyopathy: a case report

Wenjing Zhou et al · Frontiers Media S.A · 2026 · ISSN 2297-055X

Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiovascular disease, but the genetic etiology of nearly 50% of cases remains unclear. This case report describes two siblings in a non-consanguineous family who...

LCC TENDOkRpc2Vhc2VzIG9mIHRoZSBjaXJjdWxhdG9yeSAoQ2FyZGlvdmFzY3VsYXIpIHN5c3RlbQ~~Idioma eng

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A transmission relationship investigation of HIV infection through male-to-male sex among a case of left-behind children with heterosexual orientation in Zhejiang Province of China

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A transmission relationship investigation of HIV infection through male-to-male sex among a case of left-behind children with heterosexual orientation in Zhejiang Province of China

Zhigang Hou et al · Frontiers Media S.A · 2026 · ISSN 2296-2565

ObjectiveThis study seeks to trace the source of HIV infection in a male adolescent (P1) with a newly recognized heterosexual orientation in Zhejiang Province on August 23, 2019.MethodsAn in-depth epidemiological intervi...

LCC LCC:Public aspects of medicineIdioma eng

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Antimicrobial resistance of Escherichia coli isolated from retail whole chickens in Beijing and genomic analysis of cefotaxime-resistant MDR isolates

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Antimicrobial resistance of Escherichia coli isolated from retail whole chickens in Beijing and genomic analysis of cefotaxime-resistant MDR isolates

QU Hongren et al · The Editorial Office of Chinese Journal of Food Hygiene · 2025 · ISSN 1004-8456

ObjectiveTo evaluate the antimicrobial resistance characteristics and molecular epidemiological features of Escherichia coli in retail whole chickens in Beijing， including resistance rates， resistance profiles， ser...

LCC TENDOkZvb2QgcHJvY2Vzc2luZyBhbmQgbWFudWZhY3R1cmU~; LCC:Nutrition. Foods and food supplyIdioma zho

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The FOXE1 rs965513 polymorphism: a pleiotropic risk locus associated with thyroid function, BRAF V600E mutation, and susceptibility to papillary thyroid cancer

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The FOXE1 rs965513 polymorphism: a pleiotropic risk locus associated with thyroid function, BRAF V600E mutation, and susceptibility to papillary thyroid cancer

Wenran Zhang et al · Nature Portfolio · 2026 · ISSN 2045-2322

Abstract Although papillary thyroid cancer (PTC) genetic research has advanced from identifying driver genes to investigating susceptibility loci and gene-environment interactions, data in Chinese populations remain limi...

LCC LCC:Medicine; TENDOlNjaWVuY2U~Idioma eng

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Construção e avaliação agronômica de genótipos de cornichão com respostas contrastantes à toxidez por alumínio Construction and agronomic evaluation of birdsfoot trefoil genotypes with contrasting responses to aluminum toxicity

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Construção e avaliação agronômica de genótipos de cornichão com respostas contrastantes à toxidez por alumínio Construction and agronomic evaluation of birdsfoot trefoil genotypes with contrasting responses to aluminum toxicity

Armando Martins dos Santos et al · Sociedade Brasileira de Zootecnia · 2011 · ISSN 1516-3598

Este trabalho foi realizado com o objetivo de selecionar e caracterizar genótipos de Lotus corniculatus com respostas contrastantes à toxidez por alumínio. Quatro cultivares (São Gabriel, San Gabriel, Draco, Estanzue...

LCC LCC:Animal cultureIdioma eng

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A 5-Year-Old Female with Neutropenia and Compound Heterozygous Variants in CXCR2

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A 5-Year-Old Female with Neutropenia and Compound Heterozygous Variants in CXCR2

Sanchita Raychaudhuri et al · Rockefeller University Press · 2026 · ISSN 3065-8993

A 5-year-old female presented at age 2 with recurrent respiratory and ear infections, aphthous ulcers, and severe neutropenia (absolute neutrophil count [ANC] = 400 cells/mcl). Immunological testing at age 4 showed neutr...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution

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A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution

Yusaku Shimizu et al · BMC · 2026 · ISSN 1897-4287

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

LCC TENDOk5lb3BsYXNtcy4gVHVtb3JzLiBPbmNvbG9neS4gSW5jbHVkaW5nIGNhbmNlciBhbmQgY2FyY2lub2dlbnM~; LCC:GeneticsIdioma eng

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A retrospective case series of clinical signs in 28 Beagles with Lafora disease

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A retrospective case series of clinical signs in 28 Beagles with Lafora disease

Thomas Flegel et al · Oxford University Press · 2021 · ISSN 0891-6640

Abstract Background Clinical signs and their progression in Beagles with Lafora disease are poorly described. Objectives To describe clinical signs in Beagles with Lafora disease. Animals Twenty‐eight Beagles with Lafo...

LCC TENDOlZldGVyaW5hcnkgbWVkaWNpbmU~Idioma eng

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Adult-onset neuronal intranuclear inclusion disease initially presenting with prominent gastrointestinal symptoms: a case report

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Adult-onset neuronal intranuclear inclusion disease initially presenting with prominent gastrointestinal symptoms: a case report

Xiaoqin Yuan et al · BMC · 2026 · ISSN 1471-2377

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

LCC LCC:Neurology. Diseases of the nervous systemIdioma eng

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Beyond Airway Clearance: Specific Antibody Deficiency as a Driver of Refractory Sinopulmonary Disease in Primary Ciliary Dyskinesia

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Beyond Airway Clearance: Specific Antibody Deficiency as a Driver of Refractory Sinopulmonary Disease in Primary Ciliary Dyskinesia

Nathaniel Srikureja, MD et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders

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Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders

Paola Suhet et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder

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Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder

Elena Sasso et al · BMC · 2026 · ISSN 1746-4358

Abstract Background Iodine plays a critical role in producing thyroid hormones essential for brain development. An imbalance of iodine, whether deficiency or excess, can disrupt thyroid function. Iodine-induced hypothyro...

LCC TENDOlBlZGlhdHJpY3M~; LCC:Public aspects of medicineIdioma eng

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Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation

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Case report: an underdiagnosed multifocal ectopic Purkinje-related premature contractions caused by SCN5A mutation

Weiping Cao et al · BMC · 2026 · ISSN 1471-2261

Abstract Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome is a recently recognized rare channelopathy caused by gain-of-function mutations in the SCN5A gene, leading to a high burden of prematu...

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Clinical Implications of Concurrent Heterozygous LRBA and RTEL1 Variants: A Case Study

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Clinical Implications of Concurrent Heterozygous LRBA and RTEL1 Variants: A Case Study

Brinda Prasanna Kumar et al · Rockefeller University Press · 2026 · ISSN 3065-8993

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants

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Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants

Julia Körholz et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Co-Segregation of Pyoderma Gangrenosum and a Heterozygous NFKB1 Variant in a Large Kindred: An Autoinflammatory CVID-Like Phenotype

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Co-Segregation of Pyoderma Gangrenosum and a Heterozygous NFKB1 Variant in a Large Kindred: An Autoinflammatory CVID-Like Phenotype

Zsuzsanna Gaal et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundPyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiencies. Its pathogenesis is incompletely understood, but it has been increasingly reported ...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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