Dandy-Walker Syndrome. Case Report and Literature Review by William Ernesto González Águila, Osiris Intento García, Nilda Beatriz Cortizo Martínez

“…It is mainly based on an abnormal development of the cerebrospinal fluid communication pathways. Genetic predisposition associated with malformations and chromosomal alterations has been suggested. …”
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Clinical presentation, diagnosis and treatment of intrahepatic cholestasis of pregnancy by Yu. B. Uspenskaya, A. A. Sheptulin

“…The etiology and pathogenesis of ICP are related to disorders of bile acid metabolism caused by hormonal factors (elevation of estrogen and progesterone levels) and genetic predisposition. …”
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Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype by Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia

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Regional anesthesia and muscle-wasting diseases in pediatrics: A focused educational review by Amr Elhamrawy, Islam Elmitwalli, Candice Burrier, Giorgio Veneziano, Joseph D. Tobias

“…The muscular dystrophies or muscle-wasting diseases include a diverse group of genetic disorders, which result in progressive degeneration of skeletal muscles, progressive muscle weakness, and comorbid multi-system involvement. …”
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Immunopathogenesis of spondyloarthropathies – Concept of major histocompatibility locus-I-opathy by Amlan Kusum Datta, Uddalak Chakraborty, Swati Kumar, Atanu Chandra

“…Spondyloarthropathies (SpA) are a group of overlapping disorders sharing certain common clinical features and genetic associations. …”
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Attempts to identify the molecular cause of autoinflammatory recurrent fever by Oksana Boyarchuk, Diana Savkiv

“…Further research is needed to clarify the role of genetic variants and environmental factors in recurrent fevers.…”
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Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog by Ethan A. Natelson, David Pyatt

“…Myelodysplastic syndromes (MDS) are clonal myeloid disorders characterized by progressive peripheral blood cytopenias associated with ineffective myelopoiesis. …”
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Periodontal Diseases: Major Exacerbators of Pulmonary Diseases? by Bakey Kouanda, Zeeshan Sattar, Patrick Geraghty

“…Periodontal diseases are a range of polymicrobial infectious disorders, such as gingivitis and periodontitis, which affect tooth-supporting tissues and are linked to playing a role in the exacerbation of several pulmonary diseases. …”
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The Specific Dermatoses of Pregnancy by Paulina Polańska

“… Introduction and purpose: Pregnancy-specific dermatoses are a group of pruritic skin disorders that arise exclusively during pregnancy or the postpartum period. …”
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

“…Abstract Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. …”
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Substance Abuse: A Public Health Concern by Ulfat Amin, Adil Mudasir Malla, Ishrat Amin, Roohi Jan

“…It refers to the harmful or hazardous use of psychoactive substances, including drugs and alcohol, that can lead to various health problems, such as addiction, mental health disorders, and physical illness. Alcohol, nicotine, and other illicit drugs are frequently used in excess in substance use disorders, which can impair social, academic, and professional functioning. …”
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Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity by Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave

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Lamotrigine-Valproic Acid Interaction Leading to Stevens–Johnson Syndrome by Marta Vázquez, Cecilia Maldonado, Natalia Guevara, Andrea Rey, Pietro Fagiolino, Antonella Carozzi, Carlos Azambuja

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Lipidome disruption in Alzheimer’s disease brain: detection, pathological mechanisms, and therapeutic implications by Sijia He, Ziying Xu, Xianlin Han

“…Abstract Alzheimer’s disease (AD) is among the most devastating neurodegenerative disorders with limited treatment options. Emerging evidence points to the involvement of lipid dysregulation in the development of AD. …”
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Does an Association between the Idiopathic Left-Sided Varicocele and Eye Colour Exist? by Philip Kumanov, Ralitsa Robeva, Analia Tomova

“…The present results in adult men suggest that the prevalence of varicocele could be associated with the iris pigment. A possible genetic linkage between the eye colour and the susceptibility to some disorders like varicocele could not be excluded. …”
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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“… Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders which start in the intrauterine period and are inherited by autosomal recessive way. …”
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Lipid Metabolism Alterations in Hyperlipidemic Dogs with Biliary Tract or Endocrine Diseases by Tae-Woo Kim, Min-Hee Kang, Hee-Myung Park

“…These changes may originate from genetic predispositions or underlying metabolic disorders, including cholestasis and endocrine diseases. …”
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Loeys-Dietz syndrome by Bogumiła Wójcik-Niklewska, Erita Filipek

“…A 6-year-old boy with Loeys-Dietz syndrome, confirmed by molecular genetic testing, presented with high myopia, subluxated lenses, dysmorphic features, and disorders of the osteoarticular and cardiovascular systems. …”
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Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. by Rafael Pila Pérez, Víctor Adolfo Holguín Prieto, Leandro Segura Pujol

“…Along 14 years of clinical evolution, four limbs musculoskeletal disorders with atrophy of the thenar and hypothenar prominences and muscles of both legs had been emphasized. …”
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SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease by James J. Mason, Bart O. Williams

“…The study of rare human genetic disorders has often led to some of the most significant advances in biomedical research. …”
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