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Last update 08 May 2025

Pallister-Hall Syndrome

Last update 08 May 2025

Basic Info

Synonyms

CAVE Complex, CAVE Complices, Cerebroacrovisceral Early Lethality Complex

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Introduction

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

Clinical Trials associated with Pallister-Hall Syndrome

NCT06680999

/ CompletedNot ApplicableIIT

Title Endovascular Treatment of Superior Cave Syndromes Reaching the Trifurcation: a Single-Center Case Series

Superior vena cava syndrome (SCS) is caused by obstruction of blood flow in the superior vena cava, which allows venous return from the upper half of the body to the heart.
The causes are most often oncological, but can also be benign (coagulopathy, Behçet) or iatrogenic (catheterisation, PAC).
The surgical management of superior vena cava syndromes (SCS) involves the use of innovative endovascular techniques, which have become the therapy of first choice for symptomatic patients, whether the occlusion occurs in a benign or malignant context. For occlusive lesions involving the trifurcation, there are several surgical approaches and strategies, but very little data on their efficacy. In particular, Y-stenting has been described in several case reports as a means of treating the SCS and keeping the two jugulo-subclavian veins (VJSC) patent. This innovative technique has been used for several years by the vascular surgery team at Hôpital Louis Pradel.
The aim of our study is to assess the feasibility and medium-term efficacy of innovative endovascular treatments for SCS involving the trifurcation.

Start Date01 Jan 2024

Sponsor / Collaborator

Hospices Civils de Lyon

NCT00001404

/ CompletedNot ApplicableIIT

Genetic and Clinical Studies of Congenital Anomaly Syndromes

We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.

Start Date18 Aug 1994

Sponsor / Collaborator

National Human Genome Research Institute

100 Clinical Results associated with Pallister-Hall Syndrome

100 Translational Medicine associated with Pallister-Hall Syndrome

0 Patents (Medical) associated with Pallister-Hall Syndrome

799

Literatures (Medical) associated with Pallister-Hall Syndrome

01 Jul 2025·Poultry Science

Effect of l-carnitine and emulsifier on growth performance, lipid profile, lipogenesis, and oxidative stress of broiler chickens raised at high altitude

Article

Author: Khajali, Fariborz ; Hassanpour, Hossein ; Ahmadipour, Behnam ; Hasani, Fathollah Farzam

High-altitude environments impose hypobaric hypoxia on broiler chickens, leading to pulmonary hypertension syndrome (PHS), oxidative stress, and impaired growth performance. l-carnitine, known for its role in energy metabolism and antioxidant properties, and emulsifiers, which enhance fat digestion, have the potential to mitigate these challenges. This study investigated the effects of l-carnitine and emulsifier supplementation, individually and in combination, on growth performance, lipid metabolism, oxidative stress, and gene expression in broilers raised at high altitudes. A total of 675 male broilers (Ross 308) were randomly assigned to nine dietary treatments, including control, l-carnitine (50 or 100 mg/kg), emulsifier (1 or 2 g/kg), and their combinations. Growth performance, carcass traits, serum lipid profiles, hepatic enzyme activities, oxidative stress markers, and gene expression (CPT1, CPT2, SOD1, iNOS) were evaluated over 42 days. Supplementation with l-carnitine and emulsifier improved weight gain and feed conversion ratio, and reduced feed intake. Carcass yield increased, and abdominal fat decreased significantly in treated groups. l-carnitine reduced serum cholesterol, triglycerides, and LDL while increasing HDL, indicating improved lipid metabolism. Oxidative stress markers, such as malondialdehyde (MDA), were reduced, and antioxidant gene expression (SOD1) was upregulated in l-carnitine-supplemented groups. Emulsifiers enhanced fat digestion, as evidenced by increased lipase activity and CPT1/CPT2 gene expression. Combined treatments showed no consistent additive effects. It is concluded that dietary supplementation with l-carnitine and emulsifiers enhances growth performance and lipid metabolism in broilers raised at high altitudes. While l-carnitine enhances antioxidant capacity, reduces oxidative stress, and improves cardiopulmonary health, emulsifiers do not directly affect oxidant and antioxidant status but optimize lipid parameters.

01 May 2025·Veterinary Medicine and Science

The Impact of Dietary Melatonin on Heart and Lung Telomere Length and Shelterin Protein Gene Expression of Pulmonary Hypertensive Broiler Chickens

Article

Author: Gheytaspour, Peyman ; Bahadoran, Shahab ; Hassanpour, Hossein

ABSTRACTObjectivesPulmonary hypertension syndrome (PHS) is a common metabolic disease in broiler chickens linked to oxidative stress. This study explored the potential of melatonin, an antioxidant, to improve PHS response and telomere structure in chickens with cold‐induced PHS.MethodsWe investigated the effects of dietary melatonin supplementation on telomere length and the expression of genes related to telomere protection (shelterin genes) in the heart and lungs of broiler chickens with PHS.ResultsMelatonin supplementation improved telomere length in the heart tissue of chickens with PHS. We also observed changes in the expression of genes (TRF1, RAP1, and TPP1) responsible for protecting telomeres, suggesting a potential mechanism for melatonin's beneficial effects. Melatonin's impact was more pronounced in the heart than in the lungs.ConclusionsMelatonin may help protect cardiac cells during PHS by improving telomere length and influencing the activity of genes involved in telomere protection. These findings suggest that melatonin could be a valuable tool in managing heart cell dysfunction associated with PHS in poultry.

01 May 2025·Theoretical and Applied Genetics

Map-based cloning of Zmccr3 and its network construction and validation for regulating maize seed germination

Article

Author: Zhang, He ; Tao, Yongsheng ; Wang, Nan ; Zhou, Mingting ; Feng, Liqing ; Duan, Huijun ; Tao, Anyan ; Ma, Xiaolin

KEY MESSAGEMap-based cloning of Zmccr3 for regulate SG and its molecular regulatory pathway was performed and validated. WGCNA, target genes/pathways during the process of seed dormancy formation were obtained. Seed dormancy (SD) and pre-harvest sprouting (PHS) affect the grain yield and quality of grain in cereal and hybrid seed production. Although the benefits of studying SD and seed germination (SG) during seed development are well established, research into the genetic variation and molecular regulation of SD, particularly during the transition from SD to SG, remains very limited. In this study, bulked segregant analysis (BSA) and linkage analysis were used to map the QTL for the maize vp16 mutant of PHS. Using genetic and biological methods, the candidate gene was identified as Zmccr3, encoding cinnamoyl-CoA reductase 3 (ccr3), which is involved in the phenylalanine pathway of lignin metabolism and affects SG. Based on RNA-seq (RNA sequencing) at two stages of grain development with extreme PHS traits, a weighted gene coexpression network analysis (WGCNA) related to SD and SG formation was constructed, and ten target genes and three pathways during the transition from SD to SG were identified. Simultaneously, the Zmccr3 pathway was established and validated, involving upstream lipid metabolism, redox modification and degradation of cell wall oligosaccharides (as electrophilic compounds), regulation of GA signaling and intracellular ROS homeostasis, and downstream oxidation of cell wall lignin units and synthesis of phenolic compounds that affect endosperm weakening and cell wall loosening, ultimately regulating SG or SD. Therefore, we propose the Zmccr3 hypothesis to elucidate its possible functions. These findings have important theoretical and practical implications for understanding the genetic basis of PHS and SD in maize, increasing genetic resources and improving traits.

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Pallister-Hall Syndrome

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